92 research outputs found
Identification of shared and disease-specific host gene–microbiome associations across human diseases using multi-omic integration
- Author
- Publication venue
- Loyola eCommons
- Publication date
- 01/01/2022
- Field of study
While gut microbiome and host gene regulation independently contribute to gastrointestinal disorders, it is unclear how the two may interact to influence host pathophysiology. Here we developed a machine learning-based framework to jointly analyse paired host transcriptomic (n = 208) and gut microbiome (n = 208) profiles from colonic mucosal samples of patients with colorectal cancer, inflammatory bowel disease and irritable bowel syndrome. We identified associations between gut microbes and host genes that depict shared as well as disease-specific patterns. We found that a common set of host genes and pathways implicated in gastrointestinal inflammation, gut barrier protection and energy metabolism are associated with disease-specific gut microbes. Additionally, we also found that mucosal gut microbes that have been implicated in all three diseases, such as Streptococcus, are associated with different host pathways in each disease, suggesting that similar microbes can affect host pathophysiology in a disease-specific manner through regulation of different host genes. Our framework can be applied to other diseases for the identification of host gene–microbiome associations that may influence disease outcomes
Prospective evaluation of the impact of potent antiretroviral therapy on the incidence of Kaposi’s Sarcoma in East Africa: findings from the International Epidemiologic Databases to Evaluate AIDS (IeDEA) Consortium
- Author
- Publication venue
- BioMed Central
- Publication date
- 01/04/2012
- Field of study
Measuring progress and projecting attainment on the basis of past trends of the health-related Sustainable Development Goals in 188 countries: an analysis from the Global Burden of Disease Study 2016
- Author
- Abajobir Amanuel Alemu
- Abate Kalkidan Hassen
- Abbafati Cristiana
- Abbas Kaja M.
- Abd-Allah Foad
- Abdulkader Rizwan Suliankatchi
- Abdulle Abdishakur M.
- Abera Semaw Ferede
- Aboyans Victor
- Abu-Raddad Laith J.
- Abu-Rmeileh Niveen M.E.
- Adedeji Isaac Akinkunmi
- Adetokunboh Olatunji
- Afshin Ashkan
- Agrawal Anurag
- Agrawal Sutapa
- Ahmadieh Hamid
- Ahmed Muktar Beshir
- Aichour Amani Nidhal
- Aichour Ibtihel
- Aichour Miloud Taki Eddine
- Aiyar Sneha
- Akinyemi Rufus Olusola
- Akseer Nadia
- Al-Aly Ziyad
- Al-Raddadi Rajaa
- Alam Khurshid
- Alam Noore
- Alasfoor Deena
- Alene Kefyalew Addis
- Alizadeh-Navaei Reza
- Alkerwi Ala'a
- Alla François
- Allebeck Peter
- Allen Christine
- Alsharif Ubai
- Altirkawi Khalid A.
- Alvis-Guzman Nelson
- Amare Azmeraw T.
- Amini Erfan
- Ammar Walid
- Ansari Hossein
- Antonio Carl Abelardo T.
- Anwari Palwasha
- Arora Megha
- Artaman Al
- Arthur Avokpaho Euripide Frinel G.
- Aryal Krishna Kumar
- Asayesh Hamid
- Asgedom Solomon Weldegebreal
- Assadi Reza
- Atey Tesfay Mehari
- Atre Sachin R.
- Avila-Burgos Leticia
- Awasthi Ashish
- Azzopardi Peter
- Bacha Umar
- Badawi Alaa
- Balakrishnan Kalpana
- Bannick Marlena S.
- Barac Aleksandra
- Barber Ryan M.
- Barker-Collo Suzanne L.
- Barrero Lope H.
- Basu Sanjay
- Battle Katherine E.
- Baune Bernhard T.
- Beardsley Justin
- Bedi Neeraj
- Beghi Ettore
- Bell Michelle L.
- Bennett Derrick A.
- Bennett James R.
- Bensenor Isabela M.
- Berhane Adugnaw
- Berhe Derbew Fikadu
- Bernabé Eduardo
- Betsu Balem Demtsu
- Beuran Mircea
- Beyene Addisu Shunu
- Bhala Neeraj
- Bhansali Anil
- Bhatt Samir
- Bhutta Zulfiqar A.
- Bicer Burcu Kucuk
- Bidgoli Hassan Haghparast
- Bikbov Boris
- Bilal Arebu I.
- Birungi Charles
- Biryukov Stan
- Bizuayehu Habtamu Mellie
- Blancas Maria Jesus Rios
- Blosser Christopher D.
- Boneya Dube Jara
- Bose Dipan
- Bou-Orm Ibrahim R.
- Brauer Michael
- Breitborde Nicholas J.K.
- Brugha Traolach S.
- Bulto Lemma Negesa Bulto
- Butt Zahid A.
- Bärnighausen Till
- Béjot Yannick
- Cahuana-Hurtado Lucero
- Cameron Ewan
- Campuzano Julio Cesar
- Carabin Hélène
- Carrero Juan Jesus
- Carter Austin
- Casey Daniel C.
- Castañeda-Orjuela Carlos A.
- Castro Ruben Estanislao
- Catalá-López Ferrán
- Cercy Kelly
- Chang Hsing-Yi
- Chang Jung-Chen
- Charlson Fiona J.
- Chew Adrienne
- Chisumpa Vesper Hichilombwe
- Chitheer Abdulaal A.
- Christensen Hanne
- Christopher Devasahayam Jesudas
- Cirillo Massimo
- Cooper Cyrus
- Criqui Michael H.
- Cromwell Elizabeth A.
- Crump John A.
- Cárdenas Rosario
- Dandona Lalit
- Dandona Rakhi
- Dargan Paul I.
- Das Neves José
- Davitoiu Dragos V.
- De Courten Barbora
- De Steur Hans
- Defo Barthelemy Kuate
- Degenhardt Louisa
- Deiparine Selina
- Deribe Kebede
- DeVeber Gabrielle A.
- Ding Eric L.
- Djalalinia Shirin
- Do Huyen Phuc
- Dokova Klara
- Doku David Teye
- Dorsey E. Ray
- Driscoll Tim R.
- Dubey Manisha
- Duncan Bruce Bartholow
- Ebel Beth E.
- Ebrahimi Hedyeh
- El Razek Hassan Magdy Abd
- El Razek Mohammed Magdy Abd
- El Sayed Zaki Maysaa
- El-Khatib Ziad Ziad
- Enayati Ahmadali
- Endries Aman Yesuf
- Ermakov Sergey Petrovich
- Erskine Holly E.
- Eshrati Babak
- Eskandarieh Sharareh
- Esteghamati Alireza
- Estep Kara
- Faraon Emerito Jose Aquino
- Faro André
- Farzadfar Farshad
- Fazeli Mir Sohail
- Feigin Valery L.
- Feigl Andrea B.
- Fereshtehnejad Seyed-Mohammad
- Fernandes João C.
- Ferrari Alize J.
- Feyissa Tesfaye Regassa
- Filip Irina
- Fischer Florian
- Fitzmaurice Christina
- Flaxman Abraham D.
- Foigt Nataliya
- Foreman Kyle J.
- Frank Tahvi
- Franklin Richard C.
- Friedman Joseph
- Frostad Joseph J.
- Fullman Nancy
- Furtado Joao M.
- Fürst Thomas
- Gakidou Emmanuela
- Garcia-Basteiro Alberto L.
- Gebrehiwot Tsegaye Tewelde
- Geleijnse Johanna M.
- Geleto Ayele
- Gemechu Bikila Lencha
- Gething Peter W.
- Gibney Katherine B.
- Gill Paramjit Singh
- Gillum Richard F.
- Giref Ababi Zergaw
- Gishu Melkamu Dedefo
- Giussani Giorgia
- Glenn Scott D.
- Godwin William W.
- Goldberg Ellen M.
- Gona Philimon N.
- Goodridge Amador
- Gopalani Sameer Vali
- Goryakin Yevgeniy
- Griswold Max
- Gugnani Harish Chander
- Gupta Rajeev
- Gupta Tanush
- Gupta Vipin
- Hafezi-Nejad Nima
- Hailu Gessessew Bugssa
- Hamadeh Randah Ribhi
- Hammami Mouhanad
- Hankey Graeme J.
- Harb Hilda L.
- Hareri Habtamu Abera
- Hassanvand Mohammad Sadegh
- Havmoeller Rasmus
- Hawley Caitlin
- Hay Simon I.
- He Jiawei
- Hendrie Delia
- Henry Nathaniel J.
- Heredia-Pi Ileana Beatriz
- Hernandez Julio Cesar Montañez
- Hoek Hans W.
- Holmberg Mollie
- Horita Nobuyuki
- Hosgood H. Dean
- Hostiuc Sorin
- Hoy Damian G.
- Hsairi Mohamed
- Htet Aung Soe
- Huang Hsiang
- Huang John J.
- Huynh Chantal
- Iburg Kim Moesgaard
- Ikeda Chad
- Inoue Manami
- Irvine Caleb Mackay Salpeter
- Islam Sheikh Mohammed Shariful
- Jacobsen Kathryn H.
- Jahanmehr Nader
- Jakovljevic Mihajlo B.
- Jauregui Alejandra
- Javanbakht Mehdi
- Jeemon Panniyammakal
- Jha Vivekanand
- John Denny
- Johnson Catherine O.
- Johnson Sarah Charlotte
- Jonas Jost B.
- Jürisson Mikk
- Kabir Zubair
- Kadel Rajendra
- Kahsay Amaha
- Kamal Ritul
- Karch André
- Karema Corine Kakizi
- Kasaeian Amir
- Kassebaum Nicholas J.
- Kastor Anshul
- Katikireddi Srinivasa Vittal
- Kawakami Norito
- Keiyoro Peter Njenga
- Kelbore Sefonias Getachew
- Kemmer Laura
- Kengne Andre Pascal
- Kesavachandran Chandrasekharan Nair
- Khader Yousef Saleh
- Khalil Ibrahim A.
- Khan Ejaz Ahmad
- Khang Young-Ho
- Khosravi Ardeshir
- Khubchandani Jagdish
- Kiadaliri Aliasghar Ahmad
- Kieling Christian
- Kim Daniel
- Kim Jun Y.
- Kim Yun Jin
- Kimokoti Ruth W.
- Kinfu Yohannes
- Kisa Adnan
- Kissimova-Skarbek Katarzyna A.
- Kivimaki Mika
- Kokubo Yoshihiro
- Kopec Jacek A.
- Kosen Soewarta
- Koul Parvaiz A.
- Koyanagi Ai
- Kravchenko Michael
- Krohn Kristopher J.
- Kulikoff Xie Rachel
- Kumar G. Anil
- Kutz Michael J.
- Kyu Hmwe H.
- Lal Dharmesh Kumar
- Lalloo Ratilal
- Lansingh Van C.
- Larsson Anders
- Lazarus Jeffrey Victor
- Lee Paul H.
- Leigh James
- Leung Janni
- Leung Ricky
- Levi Miriam
- Li Yongmei
- Liben Misgan Legesse
- Lim Stephen S.
- Linn Shai
- Liu Patrick Y.
- Liu Shiwei
- Lodha Rakesh
- Looker Katharine J.
- Lopez Alan D.
- Lorkowski Stefan
- Lotufo Paulo A.
- Lozano Rafael
- Lucas Timothy C.D.
- Lunevicius Raimundas
- Mackay Mark T.
- Maddison Emilie R.
- Mahesh
- Majdan Marek
- Majdzadeh Reza
- Majeed Azeem
- Malekzadeh Reza
- Malhotra Rajesh
- Malta Deborah Carvalho
- Mamun Abdullah A.
- Manguerra Helena
- Mantovani Lorenzo G.
- Manyazewal Tsegahun
- Mapoma Chabila C.
- Marks Guy B.
- Martin Randall V.
- Martinez-Raga Jose
- Martins-Melo Francisco Rogerlândio
- Martopullo Ira
- Mathur Manu Raj
- Mazidi Mohsen
- McAlinden Colm
- McGaughey Madeline
- McGrath John J.
- McKee Martin
- Mehata Suresh
- Mehndiratta Man Mohan
- Meier Toni
- Meles Kidanu Gebremariam
- Memish Ziad A.
- Mendoza Walter
- Mengesha Melkamu Merid
- Mengistie Mubarek Abera
- Mensah George A.
- Mensink Gert B.M.
- Mereta Seid Tiku
- Meretoja Atte
- Meretoja Tuomo J.
- Mezgebe Haftay Berhane
- Micha Renata
- Millear Anoushka
- Miller Ted R.
- Minnig Shawn
- Mirarefin Mojde
- Mirrakhimov Erkin M.
- Misganaw Awoke
- Mishra Shiva Raj
- Mitchell Philip B.
- Mohammad Karzan Abdulmuhsin
- Mohammed Kedir Endris
- Mohammed Shafiu
- Mohan Murali B.V.
- Mokdad Ali H.
- Mollenkopf Sarah K.
- Monasta Lorenzo
- Montico Marcella
- Moradi-Lakeh Maziar
- Moraga Paula
- Morawska Lidia
- Morrison Shane D.
- Moses Mark W.
- Mountjoy-Venning Cliff
- Mueller Ulrich O.
- Muller Kate
- Murray Christopher J.L.
- Murthy Gudlavalleti Venkata Satyanarayana
- Musa Kamarul Imran
- Naghavi Mohsen
- Naheed Aliya
- Naidoo Kovin S.
- Nangia Vinay
- Natarajan Gopalakrishnan
- Negoi Ionut
- Negoi Ruxandra Irina
- Nguyen Cuong Tat
- Nguyen Grant
- Nguyen Minh
- Nguyen Quyen Le
- Nguyen Trang Huyen
- Nichols Emma
- Ningrum Dina Nur Anggraini
- Nomura Marika
- Nong Vuong Minh
- Norheim Ole F.
- Noubiap Jean Jacques N.
- Obermeyer Carla Makhlouf
- Ogbo Felix Akpojene
- Oh In-Hwan
- Oladimeji Olanrewaju
- Olagunju Andrew Toyin
- Olagunju Tinuke Oluwasefunmi
- Olivares Pedro R.
- Olsen Helen E.
- Olusanya Bolajoko Olubukunola
- Olusanya Jacob Olusegun
- Ong Kanyin
- Oren Eyal
- Ortiz Alberto
- Owolabi Mayowa O.
- Pana Adrian
- Panda Basant Kumar
- Panda-Jonas Songhomitra
- Papachristou Christina
- Park Eun-Kee
- Patton George C.
- Paulson Katherine
- Pereira David M.
- Perico David Norberto
- Pesudovs Konrad
- Petzold Max
- Phillips Michael Robert
- Pigott David M.
- Pillay Julian David
- Pinho Christine
- Piradov Michael A.
- Pishgar Farhad
- Poulton Richie G.
- Pourmalek Farshad
- Qorbani Mostafa
- Radfar Amir
- Rafay Anwar
- Rahimi-Movaghar Vafa
- Rahman Mahfuzar
- Rahman Muhammad Aziz
- Rai Rajesh Kumar
- Rajsic Sasa
- Ram Usha
- Ranabhat Chhabi Lal
- Rao Puja C.
- Rawaf Salman
- Reidy Patrick
- Reiner Robert C.
- Reinig Nikolas
- Reitsma Marissa B.
- Remuzzi Giuseppe
- Renzaho Andre M.N.
- Resnikoff Serge
- Rezaei Satar
- Rivas Jacqueline Castillo
- Roba Kedir Teji
- Rojas-Rueda David
- Rokni Mohammad Bagher
- Roshandel Gholamreza
- Roth Gregory A.
- Roy Ambuj
- Rubagotti Enrico
- Sadat Nafis
- Safdarian Mahdi
- Safi Sare
- Safiri Saeid
- Sagar Rajesh
- Salama Joseph
- Salomon Joshua A.
- Samy Abdallah M.
- Sanabria Juan Ramon
- Santomauro Damian
- Santos Itamar S.
- Santos João Vasco
- Santric Milicevic Milena M.
- Sartorius Benn
- Satpathy Maheswar
- Sawhney Monika
- Saxena Sonia
- Saylan Mete I.
- Schmidt Maria Inês
- Schneider Ione J.C.
- Schneider Matthew T.
- Schutte Aletta E.
- Schwebel David C.
- Schwendicke Falk
- Schöttker Ben
- Seedat Soraya
- Sepanlou Sadaf G.
- Servan-Mori Edson E.
- Shackelford Katya Anne
- Shaheen Amira
- Shahraz Saeid
- Shaikh Masood Ali
- Shamsipour Mansour
- Shamsizadeh Morteza
- Sharma Jayendra
- Sharma Rajesh
- She Jun
- Shi Peilin
- Shibuya Kenji
- Shields Chloe
- Shifa Girma Temam
- Shiferaw Mekonnen Sisay
- Shigematsu Mika
- Shin Min-Jeong
- Shiri Rahman
- Shirkoohi Reza
- Shirude Shreya
- Shishani Kawkab
- Shoman Haitham
- Shrime Mark G.
- Silberberg Donald H.
- Silva Diego Augusto Santos
- Silva João Pedro
- Silveira Dayane Gabriele Alves
- Singh Jasvinder A.
- Singh Virendra
- Sinha Dhirendra Narain
- Skiadaresi Eirini
- Slepak Erica Leigh
- Sligar Amber
- Smith Alison
- Smith David L.
- Smith Mari
- Sobaih Badr H.A.
- Sobngwi Eugene
- Sofia E Sa Farinha Carla
- Soljak Michael
- Soneji Samir
- Sorensen Reed J.D.
- Sposato Luciano A.
- Sreeramareddy Chandrashekhar T.
- Srinivasan Vinay
- Stanaway Jeffrey D.
- Stein Dan J.
- Steiner Caitlyn
- Steinke Sabine
- Stokes Mark Andrew
- Strub Bryan
- Sufiyan Muawiyyah Babale
- Sunguya Bruno F.
- Sur Patrick J.
- Swaminathan Soumya
- Sykes Bryan L.
- Sylte Dillon O.
- Szoeke Cassandra E.I.
- Tabarés-Seisdedos Rafael
- Tadakamadla Santosh Kumar
- Tandon Nikhil
- Tao Tianchan
- Tarekegn Yihunie L.
- Tavakkoli Mohammad
- Taveira Nuno
- Tegegne Teketo Kassaw
- Terkawi Abdullah Sulieman
- Tessema Gizachew Assefa
- Thakur
- Thankappan Kavumpurathu Raman
- Thrift Amanda G.
- Tiruye Tenaw Yimer
- Tobe-Gai Ruoyan
- Topor-Madry Roman
- Torre Anna
- Tortajada Miguel
- Tran Bach Xuan
- Troeger Christopher
- Truelsen Thomas
- Tsoi Derrick
- Tuem Kald Beshir
- Tuzcu Emin Murat
- Tyrovolas Stefanos
- Ukwaja Kingsley N.
- Uneke Chigozie Jesse
- Updike Rachel
- Ur Rahman Mohammad Hifz
- Uthman Olalekan A.
- Van Boven Job F.M.
- Van Donkelaar Aaron
- Varughese Santosh
- Vasankari Tommi
- Venketasubramanian Narayanaswamy
- Vidavalur Ramesh
- Violante Francesco S.
- Vladimirov Sergey K.
- Vlassov Vasiliy Victorovich
- Vollset Stein Emil
- Vos Theo
- Wadilo Fiseha
- Wakayo Tolassa
- Wallin Mitchell T.
- Wang Yuan-Pang
- Weichenthal Scott
- Weiderpass Elisabete
- Weintraub Robert G.
- Weiss Daniel J.
- Werdecker Andrea
- Westerman Ronny
- Whiteford Harvey A.
- Wijeratne Tissa
- Wiysonge Charles Shey
- Woldeyes Belete Getahun
- Wolfe Charles D.A.
- Woodbrook Rachel
- Xavier Denis
- Xu Gelin
- Yadgir Simon
- Yakob Bereket
- Yan Lijing L.
- Yano Yuichiro
- Yaseri Mehdi
- Ye Pengpeng
- Yimam Hassen Hamid
- Yip Paul
- Yonemoto Naohiro
- Yoon Seok-Jun
- Yotebieng Marcel
- Younis Mustafa Z.
- Zaidi Zoubida
- Zavala-Arciniega Luis
- Zhang Xueying
- Zipkin Ben
- Zodpey Sanjay
- Publication venue
- Publication date
- 01/01/2017
- Field of study
The UN’s Sustainable Development Goals (SDGs) are grounded in the global ambition of “leaving no one behind”. Understanding today’s gains and gaps for the health-related SDGs is essential for decision makers as they aim to improve the health of populations. As part of the Global Burden of Diseases, Injuries, and Risk Factors Study 2016 (GBD 2016), we measured 37 of the 50 health-related SDG indicators over the period 1990–2016 for 188 countries, and then on the basis of these past trends, we projected indicators to 2030
Global, regional, and national under-5 mortality, adult mortality, age-specific mortality, and life expectancy, 1970–2016: a systematic analysis for the Global Burden of Disease Study 2016
- Author
- Abajobir Amanuel Alemu
- Abate Kalkidan Hassen
- Abbafati Cristiana
- Abbas Kaja M.
- Abd-Allah Foad
- Abera Semaw Ferede
- Abraha Haftom Niguse
- Abu-Raddad Laith J.
- Abu-Rmeileh Niveen M.E.
- Adedeji Isaac Akinkunmi
- Adedoyin Rufus Adesoji
- Adetifa Ifedayo Morayo O.
- Adetokunboh Olatunji
- Afshin Ashkan
- Aggarwal Rakesh
- Agrawal Anurag
- Agrawal Sutapa
- Ahmad Kiadaliri Aliasghar
- Ahmed Muktar Beshir
- Aichour Amani Nidhal
- Aichour Ibthiel
- Aichour Miloud Taki Eddine
- Aiyar Sneha
- Akanda Ali Shafqat
- Akinyemiju Tomi F.
- Akseer Nadia
- Al Lami Faris Hasan
- Al-Aly Ziyad
- Al-Eyadhy Ayman
- Al-Raddadi Rajaa
- Alabed Samer
- Alahdab Fares
- Alam Khurshid
- Alam Noore
- Alasfoor Deena
- Aldridge Robert William
- Alene Kefyalew Addis
- Alhabib Samia
- Ali Raghib
- Alizadeh-Navaei Reza
- Aljunid Syed M.
- Alkaabi Juma M.
- Alkerwi Ala'a
- Alla François
- Allam Shalini D.
- Allebeck Peter
- Alsharif Ubai
- Altirkawi Khalid A.
- Alvis-Guzman Nelson
- Amare Azmeraw T.
- Ameh Emmanuel A.
- Amini Erfan
- Ammar Walid
- Amoako Yaw Ampem
- Anber Nahla
- Andrei Catalina Liliana
- Androudi Sofia
- Ansari Hossein
- Ansha Mustafa Geleto
- Antonio Carl Abelardo T.
- Anwari Palwasha
- Arora Megha
- Artaman Al
- Aryal Krishna Kumar
- Asayesh Hamid
- Asgedom Solomon Weldegebreal
- Asghar Rana Jawad
- Assadi Reza
- Atey Tesfay Mehari
- Atre Sachin R.
- Avila-Burgos Leticia
- Avokpaho Euripide Frinel G. Arthur
- Awasthi Ashish
- Ayala Quintanilla Beatriz Paulina
- Babalola Tesleem Kayode
- Bacha Umar
- Badawi Alaa
- Balakrishnan Kalpana
- Balalla Shivanthi
- Barac Aleksandra
- Barber Ryan M.
- Barboza Miguel A.
- Barker-Collo Suzanne L.
- Barquera Simon
- Barregard Lars
- Barrero Lope H.
- Baune Bernhard T.
- Bazargan-Hejazi Shahrzad
- Bedi Neeraj
- Beghi Ettore
- Bekele Bayu Begashaw
- Bell Michelle L.
- Bello Aminu K.
- Bennett Derrick A.
- Bennett James R.
- Bensenor Isabela M.
- Benson Jennifer
- Berhane Adugnaw
- Berhe Derbew Fikadu
- Bernabé Eduardo
- Beuran Mircea
- Beyene Addisu Shunu
- Bhala Neeraj
- Bhansali Anil
- Bhaumik Soumyadeep
- Bhutta Zulfiqar A.
- Bikbov Boris
- Birungi Charles
- Biryukov Stan
- Bisanzio Donal
- Bizuayehu Habtamu Mellie
- Bjerregaard Peter
- Blosser Christopher D.
- Boneya Dube Jara
- Boufous Soufiane
- Bourne Rupert R.A.
- Brazinova Alexandra
- Breitborde Nicholas J.K.
- Brenner Hermann
- Brugha Traolach S.
- Bukhman Gene
- Bulto Lemma Negesa Bulto
- Bumgarner Blair Randal
- Burch Michael
- Butt Zahid A.
- Bärnighausen Till
- Béjot Yannick
- Cahill Leah E.
- Cahuana-Hurtado Lucero
- Campos-Nonato Ismael Ricardo
- Car Josip
- Car Mate
- Carpenter David O.
- Carrero Juan Jesus
- Carter Austin
- Castañeda-Orjuela Carlos A.
- Castillo Rivas Jacqueline
- Castro Franz F.
- Castro Ruben Estanislao
- Catalá-López Ferrán
- Chen Honglei
- Chiang Peggy Pei-Chia
- Chibalabala Mirriam
- Chisumpa Vesper Hichilombwe
- Chitheer Abdulaal A.
- Choi Jee-Young Jasmine
- Christensen Hanne
- Christopher Devasahayam Jesudas
- Ciobanu Liliana G.
- Cirillo Massimo
- Cohen Aaron J.
- Colquhoun Samantha M.
- Coresh Josef
- Criqui Michael H.
- Cromwell Elizabeth A.
- Crump John A.
- Cárdenas Rosario
- Dandona Lalit
- Dandona Rakhi
- Dargan Paul I.
- Das Neves José
- Davey Gail
- Davitoiu Dragos V.
- Davletov Kairat
- De Courten Barbora
- De Leo Diego
- Degenhardt Louisa
- Deiparine Selina
- Dellavalle Robert P.
- Deribe Kebede
- Deribew Amare
- Des Jarlais Don C.
- Dey Subhojit
- Dharmaratne Samath D.
- Dherani Mukesh K.
- Diaz-Torné Cesar
- Ding Eric L.
- Dixit Priyanka
- Djalalinia Shirin
- Do Huyen Phuc
- Doku David Teye
- Donnelly Christl Ann
- Dos Santos Kadine Priscila Bender
- Douwes-Schultz Dirk
- Driscoll Tim R.
- Duan Leilei
- Dubey Manisha
- Duncan Bruce Bartholow
- Dwivedi Laxmi Kant
- Ebrahimi Hedyeh
- El Bcheraoui Charbel
- El Sayed Zaki Maysaa
- Ellingsen Christian Lycke
- Enayati Ahmadali
- Endries Aman Yesuf
- Ermakov Sergey Petrovich
- Eshetie Setegn
- Eshrati Babak
- Eskandarieh Sharareh
- Esteghamati Alireza
- Estep Kara
- Fanuel Fanuel Belayneh Bekele
- Faro André
- Farvid Maryam S.
- Farzadfar Farshad
- Feigin Valery L.
- Fereshtehnejad Seyed-Mohammad
- Fernandes Jefferson G.
- Fernandes João C.
- Feyissa Tesfaye Regassa
- Filip Irina
- Fischer Florian
- Foigt Nataliya
- Foreman Kyle J.
- Frank Tahvi
- Franklin Richard C.
- Fraser Maya
- Friedman Joseph
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- Shaheen Amira
- Shahraz Saeid
- Shaikh Masood Ali
- Shamsipour Mansour
- Shamsizadeh Morteza
- Sharma Jayendra
- Sharma Rajesh
- She Jun
- Shen Jiabin
- Shetty Balakrishna P.
- Shi Peilin
- Shibuya Kenji
- Shigematsu Mika
- Shiri Rahman
- Shiue Ivy
- Shrime Mark G.
- Sigfusdottir Inga Dora
- Silberberg Donald H.
- Silpakit Naris
- Silva Diego Augusto Santos
- Silva João Pedro
- Silveira Dayane Gabriele Alves
- Sindi Shireen
- Singh Abhishek
- Singh Jasvinder A.
- Singh Prashant Kumar
- Singh Virendra
- Sinha Dhirendra Narain
- Skiadaresi Eirini
- Sligar Amber
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- Sobngwi Eugene
- Soneji Samir
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- Sreeramareddy Chandrashekhar T.
- Srinivasan Vinay
- Stathopoulou Vasiliki
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- Steiner Caitlyn
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- Strong Mark
- Stöckl Heidi
- Sufiyan Muawiyyah Babale
- Suliankatchi Rizwan Abdulkader
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- Sur Patrick J.
- Swaminathan Soumya
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- Szoeke Cassandra E.I.
- Tabarés-Seisdedos Rafael
- Tadakamadla Santosh Kumar
- Tadese Fentaw
- Tandon Nikhil
- Tanne David
- Tarajia Musharaf
- Tavakkoli Mohammad
- Taveira Nuno
- Tehrani-Banihashemi Arash
- Tekelab Tesfalidet
- Tekle Dejen Yemane
- Temam Shifa Girma
- Temsah Mohamad-Hani
- Terkawi Abdullah Sulieman
- Tesema Cheru Leshargie
- Tesssema Belay
- Theis Andrew
- Thomas Nihal
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- Thrift Amanda G.
- Tiruye Tenaw Yimer
- Tobe-Gai Ruoyan
- Tonelli Marcello
- Topor-Madry Roman
- Topouzis Fotis
- Tortajada Miguel
- Tran Bach Xuan
- Truelsen Thomas
- Trujillo Ulises
- Tsilimparis Nikolaos
- Tuem Kald Beshir
- Tuzcu Emin Murat
- Tyrovolas Stefanos
- Ukwaja Kingsley Nnanna
- Undurraga Eduardo A.
- Uthman Olalekan A.
- Uzochukwu Benjamin S. Chudi
- Van Boven Job F.M.
- Varakin Yuri Y.
- Varughese Santosh
- Vasankari Tommi
- Vasconcelos Ana Maria Nogales
- Venketasubramanian Narayanaswamy
- Vidavalur Ramesh
- Violante Francesco S.
- Vishnu Abhishek
- Vladimirov Sergey K.
- Vlassov Vasiliy Victorovich
- Vollset Stein Emil
- Vos Theo
- Waid Jillian L.
- Wakayo Tolassa
- Wang Haidong
- Wang Yuan-Pang
- Weichenthal Scott
- Weiderpass Elisabete
- Weintraub Robert G.
- Werdecker Andrea
- Wesana Joshua
- Wijeratne Tissa
- Wilkinson James D.
- Wiysonge Charles Shey
- Woldeyes Belete Getahun
- Wolfe Charles D.A.
- Workicho Abdulhalik
- Workie Shimelash Bitew
- Xavier Denis
- Xu Gelin
- Yaghoubi Mohsen
- Yakob Bereket
- Yalew Ayalnesh Zemene
- Yan Lijing L.
- Yano Yuichiro
- Yaseri Mehdi
- Ye Pengpeng
- Yimam Hassen Hamid
- Yip Paul
- Yirsaw Biruck Desalegn
- Yonemoto Naohiro
- Yoon Seok-Jun
- Yotebieng Marcel
- Younis Mustafa Z.
- Zaidi Zoubida
- Zeeb Hajo
- Zenebe Zerihun Menlkalew
- Zerfu Taddese Alemu
- Zhang Anthony Lin
- Zhang Xueying
- Zodpey Sanjay
- Zuhlke Liesl Joanna
- Ärnlöv Johan
- Publication venue
- Publication date
- 01/01/2017
- Field of study
BACKGROUND: Detailed assessments of mortality patterns, particularly age-specific mortality, represent a crucial input that enables health systems to target interventions to specific populations. Understanding how all-cause mortality has changed with respect to development status can identify exemplars for best practice. To accomplish this, the Global Burden of Diseases, Injuries, and Risk Factors Study 2016 (GBD 2016) estimated age-specific and sex-specific all-cause mortality between 1970 and 2016 for 195 countries and territories and at the subnational level for the five countries with a population greater than 200 million in 2016.
METHODS: We have evaluated how well civil registration systems captured deaths using a set of demographic methods called death distribution methods for adults and from consideration of survey and census data for children younger than 5 years. We generated an overall assessment of completeness of registration of deaths by dividing registered deaths in each location-year by our estimate of all-age deaths generated from our overall estimation process. For 163 locations, including subnational units in countries with a population greater than 200 million with complete vital registration (VR) systems, our estimates were largely driven by the observed data, with corrections for small fluctuations in numbers and estimation for recent years where there were lags in data reporting (lags were variable by location, generally between 1 year and 6 years). For other locations, we took advantage of different data sources available to measure under-5 mortality rates (U5MR) using complete birth histories, summary birth histories, and incomplete VR with adjustments; we measured adult mortality rate (the probability of death in individuals aged 15-60 years) using adjusted incomplete VR, sibling histories, and household death recall. We used the U5MR and adult mortality rate, together with crude death rate due to HIV in the GBD model life table system, to estimate age-specific and sex-specific death rates for each location-year. Using various international databases, we identified fatal discontinuities, which we defined as increases in the death rate of more than one death per million, resulting from conflict and terrorism, natural disasters, major transport or technological accidents, and a subset of epidemic infectious diseases; these were added to estimates in the relevant years. In 47 countries with an identified peak adult prevalence for HIV/AIDS of more than 0·5% and where VR systems were less than 65% complete, we informed our estimates of age-sex-specific mortality using the Estimation and Projection Package (EPP)-Spectrum model fitted to national HIV/AIDS prevalence surveys and antenatal clinic serosurveillance systems. We estimated stillbirths, early neonatal, late neonatal, and childhood mortality using both survey and VR data in spatiotemporal Gaussian process regression models. We estimated abridged life tables for all location-years using age-specific death rates. We grouped locations into development quintiles based on the Socio-demographic Index (SDI) and analysed mortality trends by quintile. Using spline regression, we estimated the expected mortality rate for each age-sex group as a function of SDI. We identified countries with higher life expectancy than expected by comparing observed life expectancy to anticipated life expectancy on the basis of development status alone.
FINDINGS: Completeness in the registration of deaths increased from 28% in 1970 to a peak of 45% in 2013; completeness was lower after 2013 because of lags in reporting. Total deaths in children younger than 5 years decreased from 1970 to 2016, and slower decreases occurred at ages 5-24 years. By contrast, numbers of adult deaths increased in each 5-year age bracket above the age of 25 years. The distribution of annualised rates of change in age-specific mortality rate differed over the period 2000 to 2016 compared with earlier decades: increasing annualised rates of change were less frequent, although rising annualised rates of change still occurred in some locations, particularly for adolescent and younger adult age groups. Rates of stillbirths and under-5 mortality both decreased globally from 1970. Evidence for global convergence of death rates was mixed; although the absolute difference between age-standardised death rates narrowed between countries at the lowest and highest levels of SDI, the ratio of these death rates-a measure of relative inequality-increased slightly. There was a strong shift between 1970 and 2016 toward higher life expectancy, most noticeably at higher levels of SDI. Among countries with populations greater than 1 million in 2016, life expectancy at birth was highest for women in Japan, at 86·9 years (95% UI 86·7-87·2), and for men in Singapore, at 81·3 years (78·8-83·7) in 2016. Male life expectancy was generally lower than female life expectancy between 1970 and 2016, an
Finishing the euchromatic sequence of the human genome
- Author
- . Haifeng
- . Magner
- . Yin
- Abbott Scott
- Abbott-Ozersky Amanda
- Abdellah Zahra
- Abouelleil Amr
- Abrajano Anne
- Adachi Tamami
- Adam Catherine
- Adams Charles Q.
- Adamson Aaron
- Adekoya Emmanuel
- Adio-Oduola Babajide
- Aerts Andrea
- Aggarwal Arun
- Ahmadi Alireza
- Ahmed Shahana
- Aimable Matthew
- Ainscough Rachael
- Ait-Zahra Mostafa
- Aizu Tomoyuki
- Alcivare Dana
- Alegria Michelle
- Ali Alla
- Ali Johar
- Allegria-hartmann Michelle
- Alleman Jennifer
- Allen Carlana C.
- Allen Heather
- Allen Nicole R.
- Allen Susan
- Allen Thaddeus
- Almeida Jeff
- Almond Claire
- Alsbrooks Stephen L.
- Altherr Michael R.
- Amaratunge Harshinie C.
- Ambler Andrew
- Ambrose Karen
- Ambrose Kerrie
- Amemiya Chris
- Amico-Keller Gina
- Amin Amita G.
- Anderson Mechele
- Anderson Scott
- Anderson Scott
- Andora Janice
- Andredesz Carol
- Andrew Robert
- Andrews Dan
- Andrews Daniel
- Andrews Neil
- Andrews Stephanie
- Andriese Tim
- Anthouard Véronique
- Antonarakis Stylianos E.
- Anyalebechi Vivian
- Aoki Norie
- Apostolou Sinoula
- Apweiler Eva
- Arachchi Harindra
- Arai Rie
- Arbery Hazel
- Arcaina Marlon
- Arcaina Terisita
- Archer Beth
- Arellano Andre
- Arellano-Jones Perry
- Armbruster Jeff
- Armstrong Jon
- Arredondo Dilrukshi P.
- Arredondo Heather Hope
- Artiguenave François
- Asakawa Shuichi
- Asakawa Teruyo
- Ash Gareth
- Ashcroft Kevin
- Ashurst Jennifer
- Ashwell Robert
- Ashworth Linda K.
- Aslanidis Cara
- Asomugha Chinwe O.
- Asuncion Lawreen
- Atkin Deborah
- Atkinson Andrea
- Atkinson Barry
- Attix Cristina
- Attwood John
- Aubin Keith
- Auger Katherine
- Austin Shannon Michelle
- Avila Aaron
- Avis Terry
- Ayele Mulu
- Babayan Primo
- Babbage Anne
- Babbage Sarah
- Bach Phil
- Bachatsang Pasang
- Bacon Joanne
- Badri Hummy
- Baertsch Robert
- Bagguley Claire
- Bailey Jonathan
- Bajorek Eva
- Baker Andrew
- Baker Dan
- Baker M.
- Baker Richard
- Bakis Michele
- Baldwin Jennifer
- Banda Michael
- Banerjee Ruby
- Bao Jingyue
- Bao Qiyu
- Bao Weidong
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- Barbaria Joseph A.
- Barbe Valérie
- Bardill Simon
- Barker Daniel
- Barker Darren
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- Barlow Karen
- Baron Laurent
- Barrett Anika
- Bartlett Rebecca
- Basham Victoria
- Bashman David
- Basu Suba
- Bateman Alex
- Bates Karen
- Battles John
- Batzer Mark
- Baumgart Cornelia
- Baumohl Jason
- Baynes Caroline
- Bayul Tashi
- Beall Keith
- Beard Lisa
- Beard Susan
- Beare David
- Beasley Alastair
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- Beasley Oliver
- Beaucham Leslie
- Beaudet Arthur
- Beck Alfred
- Beck Stephen
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- Bell Emma
- Bell George I.
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- Bellerby Damian
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- Belter Edward A., Jr.
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- Bentley Dan
- Bentley David
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- Berghoff Amy
- Bergmann Anne
- Berkowicz Nicolas
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- Bhakta Rita
- Bhuchar Venita
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- Bird Christine
- Birditt Brian
- Birney Ewan
- Birney Ewan
- Birren Bruce
- Bissell Helen
- Biswalo Kaneza
- Bituin Aleksandr
- Black Stacey
- Blackburne-Maze Suzanne
- Blair Jessica Anne
- Blakey Sarah
- Blanks Tia
- Blasiar Darin
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- Blomstrom David B.
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- Borzym Katja
- Boukhgalter Boris
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- Bradley Amanda
- Bradshaw-Cordum Holly
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- Brannon Wade
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- Burrell Kevin L.
- Burrill Wayne
- Burrows Christine
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- Caenepeel Sean
- Cahill Patrick
- Cai Tianjing
- Cai Zhen
- Cairns Murray
- Calderon Eliana
- Callen David F.
- Camarata Jody
- Camire David
- Camm Nick
- Campbell Christopher
- Campbell Connie S.
- Campbell Evelyn W.
- Campbell Mary I.
- Campbell Mary L.
- Campo Kevin
- Canning Bruno
- Cao Ting
- Cao Yuzhu
- Caoile Chenier
- Cardenas Faviola
- Cardenas Lolo
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- Chapman Joanna
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- Daum Christopher
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- De Anda Claudia
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- DeArellano Kurt
- Deaven Larry I.
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- Deere Kerry
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- Dong Hui
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- Dong Xiaojia
- Donlin Jeremy E.
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- Dupes Alan
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- Durham Jillian
- Dutta Ireena
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- Eckenberg Ralph
- Edgar Darren
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- Engle David
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- Errington Helen
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- Evans Gareth
- Evans John
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- Eveleth Gerald
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- Footman Simon
- Forbes Lisa D.
- Ford Amanda F.
- Foster Myre J.
- Fotopulos Dea
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- Fujiyama Asao
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- Fuller Liam
- Fuller Sharin
- Fullerton Kathryn
- Fulton Lucinda A.
- Fulton Robert S.
- Furey Terrence S.
- Furuhashi Mie
- Förste Silke
- Gabisi Abdul M.
- Gage Diane
- Gaige Tony
- Galgoczy Petra
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- Garcia Ricardo M, III
- Garcia-Martinez Antonio
- Gardner Alison
- Gardner Alison
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- Garner Patrick
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- Garnes Jeffrey A.
- Garnett Jane
- Garza Melissa
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- Gatland Leigh
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- Geng Jianing
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- Gonzales Eidelyn
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- Gooderham April
- Goodstadt Leo
- Goodstein David
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- Goyea Ernest
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- Griffiths Coline
- Griffiths Ed
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- Guevara Whitney V.
- Gui Qi
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- Gunning Kate
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- Han Guiqing
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- Harbes Brandy A.
- Harding Adam
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- Harley Joanne
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- Hawkins Ebere Sylvia Onyirioha
- Hawkins Natalie
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- Heyen Joshua
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- Hildebrand Carl E.
- Hillier LaDeana
- Hillyard Guy
- Hines Sandra
- Hinkins Russell
- Hinrichs Angela S.
- Hitchens Matthew Edward
- Ho Issac
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- Hodgson David
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- Hoffs Michael
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- Hood Leroy
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- Huang Wei
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- Hyde David
- Hynds Christopher
- Idlebird Devincent G.
- Iliev Ilian
- Imbro Paula
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- Inagaki Naomi
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- Ingram Drew
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- Ishizaki Hinako
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- Itoh Takehiko
- Iwakawa Shinobu
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- Izumiyama Tomohiro
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- Jackson Terri
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- Jaeger Sara
- Jaffe David B.
- Jahn Niels
- Jaklevic Joseph
- Jaklevic Michael
- James Kent W.
- Jareborg Niclas
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- Jeffery Grant
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- Jia Jia
- Jia Jia
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- Jones Myrna D.
- Jones Steven
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- Keenan Stephen
- Kegelmeyer Laura
- Kegg Lisa
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- Kelly Shayna P.
- Kelly Susan H.
- Kershaw Joanna
- Kettleborough Ross
- Keys David
- Khan Arsi
- Khan Umer F.
- Khan Ziad Mohid
- Khine Susu
- Khurama Divya
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- Kohlberg Sara
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- Kong Yi
- Korf Ian
- Kosiura Anna
- Kou Zhaohui
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- Krawczyk Marie-Claude
- Kremitzki Colin
- Kremmidiotis Gabriel
- Krogh Anders
- Kronmiller Brent
- Kruchowski Scott S.
- Kube Michael
- Kubischta Duane
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- Kulish Larissa
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- Lam Edward
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- Lambart Christine
- Lamble Ralph
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- Lander Eric S.
- Landers Tom
- Langford Cordelia
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- Lapidus Alla
- Larke Ben
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- Lei Meng
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- Lim Meng K.
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- Lindo Ken
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- Liu Yu
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- Ludeman Thom
- Lui Annie
- Lundgren Lyndsey
- Luo Chunqing
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- Löhnert Tschong-Hun
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- Madabhushi Ramki
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- Maheshwari Manjula
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- Mangum Brian
- Manning Jonathan
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- Marabella Dick
- Mardis Elaine R.
- Mareth David
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- Marquis-Homeyer Catherine
- Marr Thomas G.
- Marra Marco
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- Matthews Charles D.
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- Matthews Sterling D.
- Mauceli Evan
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- McMurdo John
- McMurray Amanda
- McMurray Des
- McMurray Kimberly
- McMurray Kimberly L.
- McNinch Jenny
- McPherson John
- McPherson John D.
- McVicker Graham
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- Mungall Andy
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- Zhou Carol
- Zhou Haixia
- Zhou Jianling
- Zhou Nannan
- Zhou Xinfeng
- Zhou Yan
- Zhou Yang
- Zhou Yi
- Zhu Bingying
- Zhu Bofeng
- Zhu Fenghua
- Zhu Genfeng
- Zhu Genfeng
- Zhu Miao
- Zhu Ning
- Zhu Yongge
- Zhu Zhen
- Zhuang Shitao
- Zierten Deborah
- Zimmer Andrew
- Zody Michael C.
- Zollo Massimo
- Zorrilla Sara E.
- Zuo Lin
- Publication venue
- LSU Digital Commons
- Publication date
- 21/10/2004
- Field of study
The sequence of the human genome encodes the genetic instructions for human physiology, as well as rich information about human evolution. In 2001, the International Human Genome Sequencing Consortium reported a draft sequence of the euchromatic portion of the human genome. Since then, the international collaboration has worked to convert this draft into a genome sequence with high accuracy and nearly complete coverage. Here, we report the result of this finishing process. The current genome sequence (Build 35) contains 2.85 billion nucleotides interrupted by only 341 gaps. It covers ∼99% of the euchromatic genome and is accurate to an error rate of ∼1 event per 100,000 bases. Many of the remaining euchromatic gaps are associated with segmental duplications and will require focused work with new methods. The near-complete sequence, the first for a vertebrate, greatly improves the precision of biological analyses of the human genome including studies of gene number, birth and death. Notably, the human enome seems to encode only 20,000-25,000 protein-coding genes. The genome sequence reported here should serve as a firm foundation for biomedical research in the decades ahead
Genome-wide identification and phenotypic characterization of seizure-associated copy number variations in 741,075 individuals
- Author
- Abbott Liam E
- Abou-Khalil Bassel W
- Afawi Zaid
- Ali Quratulain Zulfiqar
- Allen Andrew S
- Amadori Elisa
- Anderson Joe
- Andrade Danielle M
- Annesi Grazia
- Arslan Mutluay
- Auce Pauls
- Baker Mark D
- Balestrini Simona
- Barba Carmen
- Barisic Nina
- Bartolomei Fabrice
- Baum Larry W
- Baumgartner Tobias H
- Baykan Betul
- Bebek Nerses
- Becker Felicitas
- Bennett Caitlin A
- Bennett Caitlin A
- Berkovic Samuel F
- Berkovic Samuel F
- Berkovic Samuel F
- Beydoun Ahmad
- Bianchini Claudia
- Bisulli Francesca
- Blatt Ilan
- Borggrafe Ingo
- Bosselmann Christian
- Braatz Vera
- Brockmann Knut
- Bruenger Tobias
- Buono Russell J
- Busch Robyn M
- Byrnes Andrea E
- Caglayan S Hande
- Canafoglia Laura
- Canavati Christina
- Castellotti Barbara
- Cavalleri Gianpiero L
- Cavalleri Gianpiero L
- Cerrato Felecia
- Chassoux Francine
- Cherny Stacey S
- Chou I-Jun
- Chung Seo-Kyung
- Churchhouse Claire
- Clark Peggy O
- Cole Andrew J
- Collins Ryan L
- Cosico Mahgenn
- Cossette Patrick
- Cossette Patrick
- Cotsapas Chris
- Cusick Caroline
- Davis Lea
- De Jonghe Peter
- De Jonghe Peter
- Delanty Norman
- Dennig Dieter
- Depondt Chantal
- Depondti Chantal
- Derambure Philippe
- Devinsky Orrin
- Dhindsa Ryan S
- Dhindsa Ryan S
- Dixon-Salazar Tracy
- Dlugos Dennis J
- Dlugos Dennis J
- Dlugos Dennis J
- Doccini Viola
- Doherty Colin P
- El-Naggar Hany
- Ellis Colin A
- Faucon Annika
- Feng Yen-Chen Anne
- Ferguson Lisa
- Ferraro Thomas N
- Feucht Martha
- Fitch Eryn
- Fonferko-Shadrach Beata
- Franceschetti Silvana
- French Jacqueline A
- French Jacqueline A
- Freyer Catharine
- Gagliardi Monica
- Gambardella Antonio
- Ganesan Shiva
- Giacomini Thea
- Glauser Tracy A
- Goldberg Ethan
- Goldman Alicia
- Goldstein David B
- Goldstein David B
- Goldstein David B
- Granata Tiziana
- Greenberg David A
- Guerrini Renzo
- Guerrini Renzo
- Gundogdu-Eken Asli
- Gupta Namrata
- Haas Kevin
- Haeusler Martin
- Hakonarson Hakon
- Hakonarson Hakon
- Haryanyan Garen
- Hegde Manu
- Heinzen Erin L
- Helbig Ingo
- Helbig Ingo
- Helbig Ingo
- Helbig Ingo
- Helbig Katherine L
- Hengsbach Christian
- Heyne Henrike
- Hirose Shinichi
- Hirsch Edouard
- Ho Chen-Jui
- Howrigan Daniel P
- Hucks Donald
- Iacomino Michele
- Inoue Yushi
- Ishii Atsushi
- Jehi Lara
- Johnson Michael R
- Kalviainen Reetta
- Kamalakaran Sitharthan
- Kanaan Moien
- Kara Bulent
- Kariuki SymonM
- Kegele Josua
- Kegele Josua
- Kesim Yesim
- Khoueiry-Zgheib Nathalie
- Khoury Jean
- King Chontelle
- Klein Karl Martin
- Klein Karl Martin
- Kluger Gerhard
- Knake Susanne
- Korczyn Amos D
- Korinthenberg Rudolf
- Kousiappa Ioanna
- Krause Roland
- Krestel Heinz
- Krey Ilona
- Kunz Wolfram S
- Kurlemann Gerhard
- Kurlemann Gerhard
- Kuzniecky Ruben I
- Kuzniecky Ruben I
- Kwan Patrick
- Kwan Patrick
- Kwan Patrick
- Labate Angelo
- Lal Dennis
- Lal Dennis
- Lal Dennis
- Lassuthova Petra
- Lauxmann Stephan
- Lawthom Charlotte
- Leech Stephanie L
- Leech Stephanie L
- Lehesjoki Anna-Elina
- Lemke Johannes R
- Lerche Holger
- Lerche Holger
- Lerche Holger
- Lesca Gaetan
- Leu Costin
- Leu Costin
- Lewis-Smith David
- Lewis-Smith David
- Lewis-Smith David
- Licchetta Laura
- Lin Chih-Hsiang
- Lin Kuang-Lin
- Linnankivi Tarja
- Lino Nobili
- Lo Warren
- Lowenstein Daniel H
- Lowenstein Daniel H
- Lowenstein Daniel H
- Lowenstein Daniel H
- Lui Colin HT
- Macnee Marie
- Madeleyn Rene
- Madia Francesca
- Maillard Louis
- Mancardi Maria Margherita
- Manna Lorella
- Marson Anthony G
- Marson Anthony G
- May Patrick
- Mayer Thomas
- McGraw ChristopherM
- McKenna Kevin
- Mei Davide
- Michel Veronique
- Minardi Raffaella
- Montanucci Ludovica
- Montomoli Martino
- Mostacci Barbara
- Motelow Joshua E
- Muccioli Lorenzo
- Mueller-Schlueter Karen
- Muhle Hiltrud
- Najm Imad M
- Nasreddine Wassim
- Neale Benjamin M
- Neubauer Bernd A
- Newton Charles RJC
- Niestroj Lisa-Marie
- Noebels Jeffrey L
- O'Brien Terence J
- Owusu-Agyei Seth
- Ozkara Cigdem
- Papacostas Savvas S
- Parrini Elena
- Parthasarathy Shridhar
- Pendziwiat Manuela
- Petrovski Slave
- Petrovski Slave
- Pickrell William O
- Pippucci Tommaso
- Poduri Annapurna
- Povysil Gundula
- Powell Robert HW
- Privitera Michael
- Rademacher Annika
- Ragona Francesca
- Rau Sarah
- Rees Mark I
- Regan Brigid M
- Regan Brigid M
- Reif Philipp S
- Reinthaler Eva
- Rheims Sylvain
- Riva Antonella
- Rosenow Felix
- Ryvlin Philippe
- Saarela Anni
- Sadleir Lynette G
- Sadoway Tara R
- Salman Baris
- Salpietro Vincenzo
- Scala Marcello
- Schachter Steven
- Schaller Andre
- Schankin Christoph J
- Scheffer Ingrid E
- Scheffer Ingrid E
- Schneider Natascha
- Schreiber Herbert
- Schubert-Bast Susanne
- Schulze-Bonhage Andreas
- Sedlackova Lucie
- Shain Catherine
- Sham Pakc
- Shiedley Beth R
- Shukralla Arif
- Siena S Anthony
- Sills Graeme J
- Singh Tarjinder
- Sisodiya Sanjay M
- Sisodiya Sanjay M
- Solomonson Matthew
- Sperling Michael R
- Stamberger Hannah
- Stanley Kate E
- Stanley Kate E
- Steinhoff Bernhard J
- Stephani Ulrich
- Sterbova Katalin
- Stewart Randy
- Striano Pasquale
- Striano Pasquale
- Surges Rainer
- Suzuki Toshimitsu
- Talkowski Michael
- Taneja Randip S
- Tanteles George A
- Tashman Katherine
- Thomas Rhys H
- Timonen Oskari
- Tinuper Paolo
- Todaro Marian
- Topaloglu Pinar
- Tsai Meng-Han
- Tumiene Birute
- Turkdogan Dilsad
- Ugur-Iseri Sibel
- Utkus Algirdas
- Vaidiswaran Priya
- Valton Luc
- van Baalen Andreas
- Vari Maria Stella
- Vetro Annalisa
- Vlckova Marketa
- von Spiczak Sarah
- von Wrede Randi
- Wagner Ryan G
- Watts Nick
- Weber Yvonne G
- Weckhuysen Sarah
- Weckhuysen Sarah
- Widdess-Walsh Peter
- Wolff Markus
- Wolking Stefan
- Wu David
- Xian Julie
- Yamakawa Kazuhiro
- Yapici Zuhal
- Yiolanda Christou
- Yis Uluc
- Yucesan Emrah
- Zagaglia Sara
- Zara Federico
- Zimprich Friedrich
- Zsurka Gabor
- Publication venue
- Nature Publishing Group
- Publication date
- 01/01/2023
- Field of study
Copy number variants (CNV) are established risk factors for neurodevelopmental disorders with seizures or epilepsy. With the hypothesis that seizure disorders share genetic risk factors, we pooled CNV data from 10,590 individuals with seizure disorders, 16,109 individuals with clinically validated epilepsy, and 492,324 population controls and identified 25 genome-wide significant loci, 22 of which are novel for seizure disorders, such as deletions at 1p36.33, 1q44, 2p21-p16.3, 3q29, 8p23.3-p23.2, 9p24.3, 10q26.3, 15q11.2, 15q12-q13.1, 16p12.2, 17q21.31, duplications at 2q13, 9q34.3, 16p13.3, 17q12, 19p13.3, 20q13.33, and reciprocal CNVs at 16p11.2, and 22q11.21. Using genetic data from additional 248,751 individuals with 23 neuropsychiatric phenotypes, we explored the pleiotropy of these 25 loci. Finally, in a subset of individuals with epilepsy and detailed clinical data available, we performed phenome-wide association analyses between individual CNVs and clinical annotations categorized through the Human Phenotype Ontology (HPO). For six CNVs, we identified 19 significant associations with specific HPO terms and generated, for all CNVs, phenotype signatures across 17 clinical categories relevant for epileptologists. This is the most comprehensive investigation of CNVs in epilepsy and related seizure disorders, with potential implications for clinical practice
GWAS meta-analysis of over 29,000 people with epilepsy identifies 26 risk loci and subtype-specific genetic architecture
- Author
- Abou-Khalil Bassel
- Adesoji Oluyomi M.
- Afawi Zaid
- Amadori Elisabetta
- Anderson Alison
- Anderson Joseph
- Andrade Danielle M.
- Annesi Grazia
- Auce Pauls
- Avbersek Andreja
- Bahlo Melanie
- Baker Mark D.
- Balagura Ganna
- Balestrini Simona
- Barba Carmen
- Barboza Karen
- Bartolomei Fabrice
- Bast Thomas
- Baum Larry
- Baumgartner Tobias
- Baykan Betül
- Bebek Nerses
- Becker Albert J.
- Becker Felicitas
- Bennett Caitlin A.
- Berghuis Bianca
- Berkovic Samuel F.
- Beydoun Ahmad
- Bianchini Claudia
- Bisulli Francesca
- Blatt Ilan
- Bobbili Dheeraj R.
- Borggraefe Ingo
- Bosselmann Christian
- Braatz Vera
- Bradfield Jonathan P.
- Brockmann Knut
- Brody Lawrence C.
- Buono Russell J.
- Busch Robyn M.
- Caglayan Hande
- Campbell Ciarán
- Campbell Ellen
- Canafoglia Laura
- Canavati Christina
- Cascino Gregory D.
- Castellotti Barbara
- Catarino Claudia B.
- Cavalleri Gianpiero L.
- Cerrato Felecia
- Chassoux Francine
- Chen Siwei
- Cherny Stacey S.
- Cheung Ching-Lung
- Chinthapalli Krishna
- Chou I-Jun
- Chung Seo-Kyung
- Churchhouse Claire
- Clark Peggy O.
- Cole Andrew J.
- Compston Alastair
- Coppola Antonietta
- Cosico Mahgenn
- Cossette Patrick
- Craig John J.
- Cusick Caroline
- Daly Mark J.
- Davis Lea K.
- de Haan Gerrit-Jan
- Delanty Norman
- Depondt Chantal
- Derambure Philippe
- Devinsky Orrin
- Di Vito Lidia
- Dlugos Dennis J.
- Doccini Viola
- Doherty Colin P.
- El-Naggar Hany
- Elger Christian E.
- Ellis Colin A.
- Eriksson Johan G.
- Faucon Annika
- Feng Yen-Chen A.
- Ferguson Lisa
- Ferraro Thomas N.
- Ferri Lorenzo
- Feucht Martha
- Fitzgerald Mark
- Fonferko-Shadrach Beata
- Fortunato Francesco
- Franceschetti Silvana
- Franke Andre
- French Jacqueline A.
- Freri Elena
- Gagliardi Monica
- Gambardella Antonio
- Geller Eric B.
- Giangregorio Tania
- Gjerstad Leif
- Glauser Tracy
- Goldberg Ethan
- Goldman Alicia
- Granata Tiziana
- Greenberg David A.
- Guerrini Renzo
- Gupta Namrata
- Haas Kevin F.
- Hakonarson Hakon
- Hallmann Kerstin
- Hassanin Emadeldin
- Hegde Manu
- Heinzen Erin L.
- Helbig Ingo
- Hengsbach Christian
- Heyne Henrike O.
- Hirose Shinichi
- Hirsch Edouard
- Hjalgrim Helle
- Howrigan Daniel P.
- Hucks Donald
- Hung Po-Cheng
- Iacomino Michele
- Imbach Lukas L.
- Inoue Yushi
- Ishii Atsushi
- Jamnadas-Khoda Jennifer
- Jehi Lara
- Johnson Michael R.
- Kamatani Yoichiro
- Kanaan Moien
- Kanai Masahiro
- Kantanen Anne-Mari
- Kara Bülent
- Kariuki Symon M.
- Kasperavičiūte Dalia
- Kasteleijn-Nolst Trenite Dorothee
- Kato Mitsuhiro
- Kegele Josua
- Kesim Yeşim
- Khoueiry-Zgheib Nathalie
- King Chontelle
- Kirsch Heidi E.
- Klein Karl M.
- Kluger Gerhard
- Knake Susanne
- Knowlton Robert C.
- Koeleman Bobby P. C.
- Korczyn Amos D.
- Koupparis Andreas
- Kousiappa Ioanna
- Krause Roland
- Krenn Martin
- Krestel Heinz
- Krey Ilona
- Kunz Wolfram S.
- Kurki Mitja I.
- Kurlemann Gerhard
- Kuzniecky Ruben
- Kwan Patrick
- Kälviäinen Reetta
- Labate Angelo
- Lacey Austin
- Lal Dennis
- Landoulsi Zied
- Lau Yu-Lung
- Lauxmann Stephen
- Leech Stephanie L.
- Lehesjoki Anna-Elina
- Lemke Johannes R.
- Lerche Holger
- Lesca Gaetan
- Leu Costin
- Lewin Naomi
- Lewis-Smith David
- Li Gloria H.-Y.
- Li Qingqin S.
- Licchetta Laura
- Lin Kuang-Lin
- Lindhout Dick
- Linnankivi Tarja
- Lopes-Cendes Iscia
- Lowenstein Daniel H.
- Lui Colin H. T.
- Madia Francesca
- Magnusson Sigurdur
- Marson Anthony G.
- May Patrick
- McGraw Christopher M.
- Mei Davide
- Mills James L.
- Minardi Raffaella
- Mirza Nasir
- Molloy Anne M.
- Montomoli Martino
- Mostacci Barbara
- Muccioli Lorenzo
- Muhle Hiltrud
- Møller Rikke S.
- Müller-Schlüter Karen
- Najm Imad M.
- Nasreddine Wassim
- Neale Benjamin M.
- Neubauer Bernd
- Newton Charles R. J. C.
- Nothnagel Michael
- Nöthen Markus M.
- Nürnberg Peter
- Okada Yukinori
- Oliver Karen L.
- O’Brien Terence J.
- Palotie Aarno
- Pangilinan Faith
- Papacostas Savvas S.
- Parrini Elena
- Pato Carlos N.
- Pato Michele T.
- Pendziwiat Manuela
- Petrovski Slavé
- Pickrell William O.
- Pinsky Rebecca
- Pippucci Tommaso
- Poduri Annapurna
- Pondrelli Federica
- Powell Rob H. W.
- Privitera Michael
- Rademacher Annika
- Radtke Rodney
- Ragona Francesca
- Rau Sarah
- Rees Mark I.
- Regan Brigid M.
- Reif Philipp S.
- Rhelms Sylvain
- Riva Antonella
- Rosenow Felix
- Ryvlin Philippe
- Saarela Anni
- Sadleir Lynette G.
- Sander Josemir W.
- Sander Thomas
- Scala Marcello
- Scattergood Theresa
- Schachter Steven C.
- Schankin Christoph J.
- Scheffer Ingrid E.
- Schmitz Bettina
- Schoch Susanne
- Schubert-Bast Susanne
- Schulze-Bonhage Andreas
- Scudieri Paolo
- Sham Pak
- Sheidley Beth R.
- Shih Jerry J.
- Sills Graeme J.
- Sisodiya Sanjay M.
- Smith Michael C.
- Smith Philip E.
- Sonsma Anja C. M.
- Speed Doug
- Sperling Michael R.
- Stefansson Hreinn
- Stefansson Kári
- Steinhoff Bernhard J.
- Stephani Ulrich
- Stevelink Remi
- Stewart William C.
- Stipa Carlotta
- Striano Pasquale
- Stroink Hans
- Strzelczyk Adam
- Surges Rainer
- Suzuki Toshimitsu
- Tan K. Meng
- Taneja R. S.
- Tanteles George A.
- Taubøll Erik
- Thio Liu Lin
- Thomas G. Neil
- Thomas Rhys H.
- Timonen Oskari
- Tinuper Paolo
- Todaro Marian
- Topaloğlu Pınar
- Tozzi Rossana
- Tsai Meng-Han
- Tumiene Birute
- Turkdogan Dilsad
- Unnsteinsdóttir Unnur
- Utkus Algirdas
- Vaidiswaran Priya
- Valton Luc
- van Baalen Andreas
- Vetro Annalisa
- Vining Eileen P. G.
- Visscher Frank
- von Brauchitsch Sophie
- von Wrede Randi
- Wagner Ryan G.
- Weber Yvonne G.
- Weckhuysen Sarah
- Weisenberg Judith
- Weller Michael
- Widdess-Walsh Peter
- Wolff Markus
- Wolking Stefan
- Wu David
- Yamakawa Kazuhiro
- Yang Wanling
- Yapıcı Zuhal
- Yücesan Emrah
- Zagaglia Sara
- Zahnert Felix
- Zara Federico
- Zhou Wei
- Zimprich Fritz
- Zsurka Gábor
- Zulfiqar Ali Quratulain
- Ólafsson Elías
- Özkara Çiğdem
- Publication venue
- Nature Research
- Publication date
- 01/01/2023
- Field of study
Epilepsy is a highly heritable disorder affecting over 50 million people worldwide, of which about one-third are resistant to current treatments. Here we report a multi-ancestry genome-wide association study including 29,944 cases, stratified into three broad categories and seven subtypes of epilepsy, and 52,538 controls. We identify 26 genome-wide significant loci, 19 of which are specific to genetic generalized epilepsy (GGE). We implicate 29 likely causal genes underlying these 26 loci. SNP-based heritability analyses show that common variants explain between 39.6% and 90% of genetic risk for GGE and its subtypes. Subtype analysis revealed markedly different genetic architectures between focal and generalized epilepsies. Gene-set analyses of GGE signals implicate synaptic processes in both excitatory and inhibitory neurons in the brain. Prioritized candidate genes overlap with monogenic epilepsy genes and with targets of current antiseizure medications. Finally, we leverage our results to identify alternate drugs with predicted efficacy if repurposed for epilepsy treatment
Retrospective evaluation of whole exome and genome mutation calls in 746 cancer samples
- Author
- A Gordon Robertson
- Abdullah Kahraman
- Abel Gonzalez-Perez
- Adam A Margolin
- Adam Abeshouse
- Adam Grundhoff
- Adam J Struck
- Adam J Struck
- Adam J Wright
- Adam Lambert
- Adam P Butler
- Adam P Butler
- Adel El-Naggar
- Adnan M Nagrial
- Adrian Ally
- Adrian Baez-Ortega
- Adrian Thorogood
- Adriana Salcedo
- Adrienne M Flanagan
- Ake Borg
- Akihiro Fujimoto
- Akihiro Suzuki
- Akinyemi I Ojesina
- Alain Viari
- Alan J Robertson
- Alan P Hoyle
- Alan Thompson
- Alasdair Stenhouse
- Alastair M Thompson
- Aldo Scarpa
- Alessandro Pastore
- Alex Buchanan
- Alex Buchanan
- Alexander Claviez
- Alexander J Lazar
- Alexander Martinez-Fundichely
- Alfonso Muñoz
- Alfonso Valencia
- Aliaksei Z Holik
- Alice Meng
- Alicia L Bruzos
- Allison Creason
- Allison P Heath
- Alvin Wei Tian Ng
- Alvis Brazma
- Amaro Taylor-Weiner
- Amber L Johns
- Amie Radenbaugh
- Amit G Deshwar
- Ana Dueso-Barroso
- Ana Mijalkovic Mijalkovic-Lazic
- Ana Milovanovic
- Ana Milovanovic
- Andre Kahles
- Andrea Haake
- Andrea Holbrook
- Andrea L Richardson
- Andrea Mafficini
- Andrea Ruzzenente
- Andreas Behren
- Andreas Rosenwald
- Andreia V Pinho
- Andrew Berchuck
- Andrew D Cherniack
- Andrew J Dunford
- Andrew J Mungall
- Andrew J Spillane
- Andrew Menzies
- Andrew Menzies
- Andrew P Barbour
- Andrew Tutt
- Andrew V Biankin
- Andrey Korshunov
- Andrés Lanzós
- Andy Cafferkey
- Andy G Lynch
- Angela Chou
- Angela N Brooks
- Angela Tam
- Angelica Ochoa
- Angelika N Christ
- Angelo P Dei Tos
- Anieta M Sieuwerts
- Anil K Sood
- Anita Langerød
- Anja Füllgrabe
- Anke K Bergmann
- Ann-Marie Patch
- Anna deFazio
- Anna Ehinger
- Anna Fitzgerald
- Anne Hamilton
- Anne Vincent-Salomon
- Anne Y Warren
- Anne-Lise Børresen-Dale
- Annegien Broeks
- Anthony DiBiase
- Anthony J Gill
- Anthony Ng
- Anthony R Green
- Antonia L Pritchard
- Antonio Pea
- Antonios Koures
- Aparna Prasad
- Apurva M Hegde
- Aquila Fatima
- Arcadi Navarro
- Arie B Brinkman
- Arif O Harmanci
- Arindam Maitra
- Armando Lopez-Guillermo
- Arndt Borkhardt
- Arnoud Boot
- Asger Hobolth
- Ashley Williams
- Ashton A Connor
- Atul J Butte
- Aurélien Chateigner
- Austin J Hepperla
- Axel Aretz
- Aya Sasaki-Oku
- Ayellet V Segre
- B F Francis Ouellette
- Bailey Matthew H
- Barbara Hutter
- Barbara Hutter
- Barbara Kremeyer
- Bartha M Knoppers
- Beifang Niu
- Beifang Niu
- Beifang Niu
- Benedikt Brors
- Benita Kiat Tee Tan
- Benjamin J Raphael
- Benjamin P Berman
- Benjamin Raeder
- Bernardo Rodriguez-Martin
- Bernhard Radlwimmer
- Bernice H Wong
- Beth Karlan
- Bin Tean Teh
- Bin Zhu
- Birgit Burkhardt
- Bishoy M Faltas
- Bodil Bjerkehagen
- Bogdan Czerniak
- Boris Winterhoff
- Borislav C Rusev
- Bradly G Wouters
- Brandi N Davis-Dusenbery
- Brian Craft
- Brian D O'Connor
- Brian Patrick O'Neill
- Brice Aminou
- Calvin Wing Yiu Chan
- Cameron M Soulette
- Carl Herrmann
- Carl Morrison
- Carlo Gambacorti-Passerini
- Carlos Caldas
- Carlos D Bustamante
- Carlos López-Otín
- Carlota Rubio-Perez
- Carmen Gomez
- Carolien H M van Deurzen
- Carolyn M Hutter
- Carolyn M Hutter
- Carrie Cibulskis
- Caterina Vicentini
- Catherine A Shang
- Catherine D Moser
- Catherine J Kennedy
- Catrina C Fronick
- Chad J Creighton
- Chandra Sekhar Pedamallu
- Chang Li
- Charles David Imbusch
- Charles M Perou
- Charles Saller
- Charles Short
- Charlie E Massie
- Chawalit Pairojkul
- Chen Hong
- Chen Ye
- Cheng-Zhong Zhang
- Chin-Lee Wu
- Chip Stewart
- Chip Stewart
- Chip Stewart
- Choon Kiat Ong
- Chris Lawerenz
- Chris Mitchell
- Chris Sander
- Christian von Mering
- Christiane Buchholz
- Christina K Yung
- Christina K Yung
- Christina Yau
- Christine A Iacobuzio-Donahue
- Christine Chomienne
- Christine Desmedt
- Christine P'ng
- Christof von Kalle
- Christoph Borst
- Christoph Plass
- Christopher A Miller
- Christopher Benz
- Christopher J Scarlett
- Christopher J Yoon
- Christopher K Wong
- Christopher M Lalansingh
- Christopher M Lalansingh
- Christopher Ogden
- Christopher S Foster
- Christopher Umbricht
- Christopher W Toon
- Christos Sotiriou
- Cindy Bell
- Cinzia Cantù
- Ciyue Shen
- Claes Wadelius
- Clare Verrill
- Clarissa Gerhauser
- Claudia Calabrese
- Claudio Bassi
- Claudio Luchini
- Claudiu Farcas
- Clemency Jolly
- Colin A Purdie
- Colin A Semple
- Colin C Collins
- Colin S Cooper
- Conrad R Leonard
- Constance H Li
- Corbin D Jones
- Craig Shriver
- Cristina López
- Cyriac Kandoth
- Cyril Fisher
- D Neil Hayes
- Dai-Ying Wu
- Daiming Fan
- Daisuke Komura
- Dale W Garsed
- Daniel A Leongamornlert
- Daniel Baumhoer
- Daniel Hübschmann
- Daniel J Turner
- Daniel J Weisenberger
- Daniel M Berney
- Daniel Rosebrock
- Daniel S Brewer
- Daniela S Gerhard
- Danielle Pasternack
- Darell Bigner
- Dariush Etemadmoghadam
- Darlene Lee
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- Troy Shelton
- Tsun-Po Yang
- Ultan McDermott
- Umadevi Veluvolu
- Umut H Toprak
- Valerie Jakrot
- Varsha Tembe
- Vasilisa A Rudneva
- Venkata D Yellapantula
- Venkata D Yellapantula
- Vera B Kaiser
- Veronica Y Sabelnykova
- Victor Reuter
- Vikram Deshpande
- Viktoriya Korchina
- Ville Mustonen
- Vinayak Bhandari
- Vincent Ferretti
- Vincent Huang
- Vincent Huang
- Vincent J Gnanapragasam
- Vincent Khoo
- Vincenzo Corbo
- Vishal S Chandan
- Volker Hovestadt
- W Kimryn Rathmell
- W M Linehan
- Walker Hale
- Wan Choi
- Wanding Zhou
- Wang Liang-Bo
- Weerasinghe Amila
- Wei Jiao
- Wendl Michael C
- Wenyi Wang
- Wenyi Wang
- Wenyi Wang
- Wheeler David A
- William B Isaacs
- William C Faquin
- William Friedman
- William Howat
- William U Meyerson
- Willie Yu
- Winghing Wong
- Wojciech Bazant
- Wolfgang Huber
- Wolfram Klapper
- Xavier Estivill
- Xavier Pivot
- Xiao Xiao
- Xiaobo Li
- Xiaoping Su
- Xiaotong Li
- Xiaotong Yao
- Xing Hua
- Xingmin Liu
- Xinyue Li
- Xiuqing Zhang
- Xiuqing Zheng
- Xose S Puente
- Xuan Le
- Xuanping Zhang
- Xuemei Luo
- Xueqing Zou
- Yan Shi
- Yan Zhang
- Yang Wu
- Yang Yang
- Yann Joly
- Yanxun Xu
- Yao He
- Yasin Senbabaoglu
- Yassen Assenov
- Yasser Riazalhosseini
- Yasuhito Arai
- Yasushi Rino
- Yasushi Totoki
- Yeng Ang
- Yi Huang
- Yi Huang
- Yifei Men
- Yiling Lu
- Yilong Li
- Yingyan Yu
- Yiwen Chen
- Yogesh Kumar
- Yogesh Kumar
- Yoke-Eng Chiew
- Yong Hou
- Yong Zhou
- Yong-Jie Lu
- Yongzhan Nie
- Yosef E Maruvka
- Yosef E Maruvka
- Yoshiiku Kawakami
- Young Seok Ju
- Youngchoon Woo
- Youngil Koh
- Youngwook Kim
- Youyong Lu
- Yu Fan
- Yu Fan
- Yu Fan
- Yu-Jia Shiah
- Yuan Ji
- Yuan Yuan
- Yuichi Shiraishi
- Yulia Newton
- Yulia Rubanova
- Yumeng Wang
- Yupeng Cun
- Yussanne Ma
- Zachary Heins
- Zechen Chong
- Zechen Chong
- Zemin Zhang
- Zhaohong Chen
- Zhenggang Wu
- Zhenggang Wu
- Zhining Wang
- Zhongming Zhao
- Ziao Lin
- Zsofia Kote-Jarai
- Ólafur Andri Stefánsson
- Øystein Garred
- Publication venue
- Nature Communications
- Publication date
- 01/01/2020
- Field of study
Funder: NCI U24CA211006Abstract: The Cancer Genome Atlas (TCGA) and International Cancer Genome Consortium (ICGC) curated consensus somatic mutation calls using whole exome sequencing (WES) and whole genome sequencing (WGS), respectively. Here, as part of the ICGC/TCGA Pan-Cancer Analysis of Whole Genomes (PCAWG) Consortium, which aggregated whole genome sequencing data from 2,658 cancers across 38 tumour types, we compare WES and WGS side-by-side from 746 TCGA samples, finding that ~80% of mutations overlap in covered exonic regions. We estimate that low variant allele fraction (VAF < 15%) and clonal heterogeneity contribute up to 68% of private WGS mutations and 71% of private WES mutations. We observe that ~30% of private WGS mutations trace to mutations identified by a single variant caller in WES consensus efforts. WGS captures both ~50% more variation in exonic regions and un-observed mutations in loci with variable GC-content. Together, our analysis highlights technological divergences between two reproducible somatic variant detection efforts
The Costs of Prison Labor
- Publication venue
- Scholarly Commons @ UNLV Boyd Law
- Publication date
- 14/12/2018
- Field of study
Professor Ruben Garcia (Professor of Law and Co-Director of the UNLV Workplace Law Program) and Beth Schwartzapfel (Staff writer at the Marshall Project) discuss the state of prison labor in the U.S
The evaluation of next generation learning technologies: the case of mobile learning
- Author
- Publication venue
- Publication date
- 01/01/2006
- Field of study
Mobile learning is at a leading edge of learning technologies and is at present characterised by pilots and trials that allow mobile technologies to be tested in a variety of learning contexts. The sustained deployment of mobile learning will depend on these pilots and trials, especially their evaluation methodology and reporting. The paper examines a sample of current evaluation practice, based on evidence drawn from conference proceedings, published case studies, and other accounts from the literature and draws on the authors' work in collecting case studies of mobile learning from a range of recent projects. The issues discussed include the apparent objectives of the documented pilots or trials, the nature of the evaluations, instruments and techniques used, and the presentation of findings. The paper reflects on the quality of evaluation in mobile learning pilots and trials, in the broader context of evolving practices in the evaluation of educational technologies
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