10 research outputs found
Whole-genome sequencing reveals host factors underlying critical COVID-19
- Author
- Abd Elghafar M.S.
- Abdel-Aziz M.
- Abdelrazik M.
- Abdollahi H.
- Abdullah T.
- Abecasis G.R.
- Abecasis G.R.
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- Abul-Husn N.S.
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- Trivedi B.
- Trodd D.
- Trogstad L.-I.S.
- Trotman S.
- Trotta T.
- Trower H.
- Truman N.
- Trumper E.
- Tsao P.
- Tselios C.
- Tsinaslanidis G.
- Tsuo K.
- Tucci A.
- Tuckey V.
- Tully R.
- Tumbarello M.
- Turki S.
- Turley P.
- Turnbull A.
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- Turner V.
- Turner-Bone I.
- Turney S.
- Turtle L.
- Tutton R.
- Twiss S.
- Tyl D.
- Tyler A.
- Uitterlinden A.G.
- Underwood S.J.
- Vaghi M.
- Vaida M.
- Valente S.
- Valentine J.
- Valentino F.
- van Blokland I.
- van Heel D.A.
- van Koutrik L.
- Varghese M.
- Vecchia M.
- Vedage D.
- Veerapen K.
- Venkatesh H.
- Venn L.D.
- Venturelli S.
- Vergori A.
- Verlander M.
- Verma A.
- Verma A.
- Verma S.S.
- Vertue M.
- Verula J.
- Verzuri A.
- Vigurs C.
- Villalonga J.M.
- Vincent R.
- Vincenti A.
- Virgilio E.
- Vitart V.
- Vizcaychipi M.P.
- Vochin A.
- Voide C.
- von Frenckell C.
- von Hohenstaufen K.A.
- Vonk J.M.
- Vulesevic B.
- Vuylsteke A.
- Wackett T.
- Wadams B.
- Waddington N.
- Wagstaff V.
- Wain L.V.
- Waite A.A.C.
- Wakefield P.
- Wakinshaw F.
- Waldron J.
- Walker D.
- Walker R.
- Walker S.
- Walker S.
- Walker S.
- Wall A.
- Walsh T.
- Walsh T.
- Walters R.K.
- Walton O.
- Wang B.
- Wang J.
- Wang X.
- Wanying Z.
- Ward G.
- Ward L.
- Ward M.
- Warden S.
- Warmerdam R.
- Warren D.
- Wassall H.
- Wasson C.
- Watkins C.
- Watson E.
- Watson G.
- Watson J.
- Watters M.
- Waugh V.
- Weaver J.
- Webster A.
- Webster D.
- Webster K.
- Wei S.
- Weiss S.T.
- Weldon C.H.
- Wells C.
- Welters I.D.
- Weston H.
- Whileman A.
- Whitbread J.
- White D.
- White I.
- White K.
- White M.
- White N.
- White N.
- Whiteley S.
- Whiteside J.
- Whittle H.
- Whitton C.
- Whyte C.
- Wicks S.J.
- Wilby E.
- Wilcox L.
- Wilcox R.
- Wild H.
- Wild L.
- Wild L.
- Wilding L.
- Wiles M.
- Wilkins J.
- Wilkinson A.
- Wilkinson B.
- Willer C.
- Williams A.
- Williams A.
- Williams A.
- Williams A.T.
- Williams D.
- Williams E.
- Williams F.
- Williams G.
- Williams H.
- Williams K.
- Williams M.
- Williams P.
- Williams S.
- Williams T.
- Willis C.
- Willis H.
- Wills M.
- Willson J.
- Wilson A.
- Wilson D.J.
- Wilson J.
- Wilson J.F.
- Wilson J.F.
- Winnard S.
- Winter-Goodwin B.
- Wolf-Roberts R.
- Wolford B.
- Wong J.
- Wood D.
- Wood H.-L.
- Wood S.
- Wood T.
- Woodford C.
- Woodruff M.
- Woods L.
- Woodyatt W.
- Woolley A.E.
- Worner R.
- Worsley L.
- Wray G.
- Wren L.
- Wrey Brown C.
- Wright D.
- Wright J.
- Wright M.
- Wrobel N.
- Wu Y.
- Wulandari R.
- Wyllie D.H.
- Wynter I.
- Xavier K.
- Xue X.
- Yadav A.
- Yang J.
- Yassen A.M.
- Yates B.
- Ye C.
- Yun N.
- Zainy T.
- Zak A.
- Zaki A.
- Zamikula J.
- Zanella I.
- Zborowski A.C.
- Zeberg H.
- Zechner M.
- Zechner M.
- Zguro K.
- Zhang M.
- Zhao J.H.
- Zheng C.
- Zhou W.
- Zitter L.
- Zlatopolsky M.
- Zongo O.
- Zucchi P.
- Zyndorf M.
- Zöllner S.
- Åsvold B.O.
- Publication venue
- Springer Science and Business Media LLC
- Publication date
- 07/07/2022
- Field of study
Get PDFCritical COVID-19 is caused by immune-mediated inflammatory lung injury. Host genetic variation influences the development of illness requiring critical care1 or hospitalization2,3,4 after infection with SARS-CoV-2. The GenOMICC (Genetics of Mortality in Critical Care) study enables the comparison of genomes from individuals who are critically ill with those of population controls to find underlying disease mechanisms. Here we use whole-genome sequencing in 7,491 critically ill individuals compared with 48,400 controls to discover and replicate 23 independent variants that significantly predispose to critical COVID-19. We identify 16 new independent associations, including variants within genes that are involved in interferon signalling (IL10RB and PLSCR1), leucocyte differentiation (BCL11A) and blood-type antigen secretor status (FUT2). Using transcriptome-wide association and colocalization to infer the effect of gene expression on disease severity, we find evidence that implicates multiple genes—including reduced expression of a membrane flippase (ATP11A), and increased expression of a mucin (MUC1)—in critical disease. Mendelian randomization provides evidence in support of causal roles for myeloid cell adhesion molecules (SELE, ICAM5 and CD209) and the coagulation factor F8, all of which are potentially druggable targets. Our results are broadly consistent with a multi-component model of COVID-19 pathophysiology, in which at least two distinct mechanisms can predispose to life-threatening disease: failure to control viral replication; or an enhanced tendency towards pulmonary inflammation and intravascular coagulation. We show that comparison between cases of critical illness and population controls is highly efficient for the detection of therapeutically relevant mechanisms of disease
Avaliação de meios de cultura no crescimento micelial e esporulação de Alternaria brasiliensis
- Author
- Publication venue
- 'FapUNIFESP (SciELO)'
- Publication date
- Field of study
No full textPressure Ulcers Prevalence and Potential Risk Factors Among Intensive Care Unit Patients in Governmental Hospitals in Palestine: A Cross-sectional Study
- Author
- Publication venue
- 'Bentham Science Publishers Ltd.'
- Publication date
- Field of study
No full textEvaluation of biological contaminants in foods by hyperspectral imaging: A review
- Author
- Abramson D.
- Cisticercosis Subcutánea: Carrada T.
- Delwiche S.R.
- Di Crispino K.
- Elvira L.
- Farag R.S.
- Gonzalez M.
- Hamad S.H.
- Jackson E.S.
- Kandpal L.M.
- Kim M.S.
- Koch H.A.
- Muir W.E.
- Murillo-Arbizu M.
- Nychas G.
- Palou L.
- Peng Y.K.
- Ramahefarisoa R.M.
- Raúl Siche
- Recent Cozzolino D.
- Ricardo Vejarano
- Saunders G.C.
- Shahin M.A.
- Shaw G.
- Tao F.
- The Molecular Shikama K.
- Wang W.
- Wendu Tesfaye
- Windham W.R.
- Yang C.C.
- Zhang H.
- Publication venue
- 'Informa UK Limited'
- Publication date
- Field of study
No full textEVALUACIÓN DE LA DISTRIBUCIÓN ESPACIAL DE PLANTAS INDUSTRIALES MEDIANTE UN ÍNDICE DE DESEMPEÑO
- Author
- Apple J. M.
- Ariafar S.
- Armour G. C.
- Arunkumar N.
- Askin R. G.
- Bazaraa M. S.
- Bendaña R.
- Bozer Y. A.
- Bradley L.
- Buffa E.S.
- Chase R. B.
- Diego-Mas J. A.
- Drira A.
- Edis R. S.
- Emami S.
- Foulds L. R.
- Francis R. L.
- Fu M. C.
- Gao Z.
- García-Hernandez L.
- Garey M. R.
- Han K. H.
- Hillier F. S.
- Immer R. J.
- Kanaganayagam K.
- Kaufman L.
- Koopmans T. C.
- Kotler P.
- Krajewski L. J.
- Kulturel-Konak S.
- Kusiak A.
- Lawler E. L.
- Lee R.
- Lucko G.
- Mallikarjuna K.
- Martino J. P.
- Matai R.
- McKendall J. A. R.
- Mecklenburgh J. C.
- Meller R. D.
- Meller R. D.
- Moslemipour G.
- Muther R.
- Nadler G.
- Nagapak N.
- Neumann C. S. R.
- Orndoff C. J.
- PABLO ALBERTO PÉREZ GOSENDE
- Padel S.
- Reed R.
- Ripon K. S. N.
- Río-Cidoncha G. Del
- Sadeghpour F.
- Seehof J. M.
- Shahin A.
- Sharma P.
- Singh S. P.
- Sourani A.
- Suo X.
- Tortorella G. L.
- Vasudevan K.
- Yang L.
- Yang L.
- Yang T.
- Yang T.
- Yeung J. F.
- Önüt S.
- Publication venue
- 'FapUNIFESP (SciELO)'
- Publication date
- Field of study
No full textMapping age- and sex-specific HIV prevalence in adults in sub-Saharan Africa, 2000–2018
- Author
- Abbastabar Hedayat
- Abhilash E.S.
- Adabi Maryam
- Adebayo Oladimeji M.
- Adekanmbi Victor
- Adeyinka Daniel Adedayo
- Afzal Saira
- Ahinkorah Bright Opoku
- Ahmadi Keivan
- Ahmed Muktar Beshir
- Akalu Yonas
- Akinyemi Rufus Olusola
- Akunna Chisom Joyqueenet
- Alahdab Fares
- Alanezi Fahad Mashhour
- Alanzi Turki M.
- Alene Kefyalew Addis
- Alhassan Robert Kaba
- Alipour Vahid
- Almasi-Hashiani Amir
- Alvis-Guzman Nelson
- Ameyaw Edward Kwabena
- Amini Saeed
- Amugsi Dickson A.
- Ancuceanu Robert
- Anvari Davood
- Appiah Seth Christopher Yaw
- Arabloo Jalal
- Aremu Olatunde
- Asemahagn Mulusew A.
- Awedew Atalel Fentahun
- Ayanore Martin Amogre
- Aynalem Yared Asmare
- Azari Samad
- Azene Zelalem Nigussie
- Babalola Tesleem Kayode
- Baig Atif Amin
- Bali Ahmed Omar
- Banach Maciej
- Barnighausen Till Winfried
- Bell Arielle Wilder
- Bhagavathula Akshaya Srikanth
- Bhardwaj Nikha
- Bhardwaj Pankaj
- Bhattacharyya Krittika
- Bijani Ali
- Bitew Zebenay Workneh
- Bohlouli Somayeh
- Bolarinwa Obasanjo Afolabi
- Boloor Archith
- Bozicevic Ivana
- Butt Zahid A.
- Cardenas Rosario
- Carvalho Felix
- Charan Jaykaran
- Chattu Vijay Kumar
- Chowdhury Mohiuddin Ahsanul Kabir
- Chu Dinh-Toi
- Cork Michael A.
- Cowden Richard G.
- Cuong Tat Nguyen
- Dahlawi Saad M. A.
- Damiani Giovanni
- Darshan B.B.
- Darteh Eugene Kofuor Maafo
- Darwesh Aso Mohammad
- das Neves Jose
- De Leo Diego
- De Neve Jan-Walter
- Defo Barthelemy Kuate
- Deribe Kebede
- Deuba Keshab
- Dharmaratne Samath
- Dianatinasab Mostafa
- Diaz Daniel
- Didarloo Alireza
- Djalalinia Shirin
- Dorostkar Fariba
- Dubljanin Eleonora
- Duko Bereket
- Dwyer-Lindgren Laura
- El Tantawi Maha
- El-Jaafary Shaimaa
- Eshrati Babak
- Eskandarieh Sharareh
- Eyawo Oghenowede
- Ezeonwumelu Ifeanyi Jude
- Ezzikouri Sayeh
- Farzadfar Farshad
- Fattahi Nazir
- Fauk Nelsensius Klau
- Fernandes Eduarda
- Filip Irina
- Fischer Florian
- Foigt Nataliya A.
- Foroutan Masoud
- Fukumoto Takeshi
- Gad Mohamed M.
- Gaidhane Abhay Motiramji
- Gebregiorgis Birhan Gebresillassie
- Gebremedhin Ketema Bizuwork
- Getacher Lemma
- Ghadiri Keyghobad
- Ghashghaee Ahmad
- Giang Thu Vu
- Golechha Mahaveer
- Gubari Mohammed Ibrahim Mohialdeen
- Gugnani Harish Chander
- Guimaraes Rafael Alves
- Haeuser Emily
- Haider Mohammad Rifat
- Haj-Mirzaian Arvin
- Hamidi Samer
- Hashi Abdiwahab
- Hassanipour Soheil
- Hassankhani Hadi
- Hay Simon
- Hayat Khezar
- Herteliu Claudiu
- Ho Hung Chak
- Holla Ramesh
- Hosseini Mostafa
- Hosseinzadeh Mehdi
- Huong Lan Thi Nguyen
- Hwang Bing-Fang
- Ibitoye Segun Emmanuel
- Ilesanmi Olayinka Stephen
- Ilic Irena M.
- Ilic Milena D.
- Islam Rakibul M.
- Iwu Chidozie C. D.
- Jafarabadi Mohammad Asghari
- Jakovljevic Mihajlo
- Jha Ravi Prakash
- Ji John S.
- Johnson Kimberly B.
- Joseph Nitin
- Joshua Vasna
- Joukar Farahnaz
- Jozwiak Jacek Jerzy
- Kafil Hossein Samadi
- Kalankesh Leila R.
- Kalhor Rohollah
- Kamyari Naser
- Kan Fatemeh Pashazadeh
- Kanchan Tanuj
- Karimi Salah Eddin
- Karyani Ali Kazemi
- Kayode Gbenga A.
- Keramati Maryam
- Khan Ejaz Ahmad
- Khan Gulfaraz
- Khan Md Nuruzzaman
- Khatab Khaled
- Khubchandani Jagdish
- Kim Yun Jin
- Kisa Adnan
- Kisa Sezer
- Kopec Jacek A.
- Kosen Soewarta
- Koyanagi Ai
- Krishan Kewal
- Kugbey Nuworza
- Kulkarni Vaman
- Kumar Manasi
- Kumar Nithin
- Kusuma Dian
- La Vecchia Carlo
- Lal Dharmesh Kumar
- Landires Ivan
- Larson Heidi Jane
- Lasrado Savita
- Laxminarayana Sindhura Lakshmi Koulmane
- Lee Paul H.
- Li Shanshan
- Liu Xuefeng
- Mahesh P. A.
- Maleki Afshin
- Malik Preeti
- Mansournia Mohammad Ali
- Martins-Melo Francisco Rogerlandio
- Matin Behzad Karami
- Mendoza Walter
- Menezes Ritesh G.
- Mengesha Endalkachew Worku
- Meretoja Tuomo J.
- Mestrovic Tomislav
- Mirica Andreea
- Moazen Babak
- Moghaddam Sahar Saeedi
- Mohamad Osama
- Mohammad Yousef
- Mohammadian-Hafshejani Abdollah
- Mohammadpourhodki Reza
- Mohammed Salahuddin
- Mohammed Shafiu
- Mokdad Ali H.
- Moradi Masoud
- Moraga Paula
- Mubarik Sumaira
- Mulu Getaneh Baye B.
- Mwanri Lillian
- Nagarajan Ahamarshan Jayaraman
- Naimzada Mukhammad David
- Naveed Muhammad
- Nazari Javad
- Ndejjo Rawlance
- Negoi Ionut
- Ngalesoni Frida N.
- Nguefack-Tsague Georges
- Ngunjiri Josephine W.
- Nnaji Chukwudi A.
- Noubiap Jean Jacques
- Nunez-Samudio Virginia
- Nwatah Vincent Ebuka
- Oancea Bogdan
- Odukoya Oluwakemi Ololade
- Olagunju Andrew T.
- Olakunde Babayemi Oluwaseun
- Olusanya Bolajoko Olubukunola
- Olusanya Jacob Olusegun
- Onwujekwe Obinna E.
- Orisakwe Orish Ebere
- Otstavnov Nikita
- Otstavnov Stanislav S.
- Owolabi Mayowa O.
- Padubidri Jagadish Rao
- Pana Adrian
- Pandey Ashok
- Pandi-Perumal Seithikurippu R.
- Patton George C.
- Pawar Shrikant
- Peprah Emmanuel K.
- Postma Maarten J.
- Preotescu Liliana
- Quintanilla Beatriz Paulina Ayala
- Rabiee Navid
- Radfar Amir
- Rafiei Alireza
- Rahim Fakher
- Rahimi-Movaghar Vafa
- Rahmani Amir Masoud
- Ramezanzadeh Kiana
- Rana Juwel
- Ranabhat Chhabi Lal
- Rao Sowmya J.
- Rawaf David Laith
- Rawaf Salman
- Rawassizadeh Reza
- Regassa Lemma Demissie
- Rezaei Nima
- Rezapour Aziz
- Riaz Mavra A.
- Ribeiro Ana Isabel
- Ross Jennifer M.
- Rubagotti Enrico
- Rumisha Susan Fred
- Rwegerera Godfrey M.
- Sagar Rajesh
- Sahiledengle Biniyam
- Sahu Maitreyi
- Salem Marwa Rashad
- Samy Abdallah M.
- Sartorius Benn
- Sathian Brijesh
- Seidu Abdul-Aziz
- Serfes Audrey L.
- Shaheen Amira A.
- Shaikh Masood Ali
- Shamsizadeh Morteza
- Shiferaw Wondimeneh Shibabaw
- Shin Jae Il
- Shrestha Roman
- Singh Jasvinder A.
- Skryabin Valentin Yurievich
- Skryabina Anna Aleksandrovna
- Soltani Shahin
- Sufiyan Mu'awiyyah Babale
- Syed Zahiruddin Quazi
- Tabuchi Takahiro
- Tadesse Eyayou Girma
- Taveira Nuno
- Tesfay Fisaha Haile
- Thapar Rekha
- Tovani-Palone Marcos Roberto
- Tsegaye Gebiyaw Wudie
- Umeokonkwo Chukwuma David
- Unnikrishnan Bhaskaran
- Villafane Jorge Hugo
- Violante Francesco S.
- Vo Bay
- Wado Yohannes Dibaba
- Waheed Yasir
- Wamai Richard G.
- Wang Yanzhong
- Ward Paul
- Weaver Nicole Davis
- Wickramasinghe Nuwan Darshana
- Wilson Katherine
- Yang Mingyou
- Yaya Sanni
- Yip Paul
- Yonemoto Naohiro
- Yu Chuanhua
- Zastrozhin Mikhail Sergeevich
- Zhang Yunquan
- Zhang Zhi-Jiang
- Publication venue
- BioMed Central
- Publication date
- 01/01/2022
- Field of study
No full textBackground: Human immunodeficiency virus and acquired immune deficiency syndrome (HIV/AIDS) is still among the leading causes of disease burden and mortality in sub-Saharan Africa (SSA), and the world is not on track to meet targets set for ending the epidemic by the Joint United Nations Programme on HIV/AIDS (UNAIDS) and the United Nations Sustainable Development Goals (SDGs). Precise HIV burden information is critical for effective geographic and epidemiological targeting of prevention and treatment interventions. Age- and sex-specific HIV prevalence estimates are widely available at the national level, and region-wide local estimates were recently published for adults overall. We add further dimensionality to previous analyses by estimating HIV prevalence at local scales, stratified into sex-specific 5-year age groups for adults ages 15–59 years across SSA.
Methods: We analyzed data from 91 seroprevalence surveys and sentinel surveillance among antenatal care clinic (ANC) attendees using model-based geostatistical methods to produce estimates of HIV prevalence across 43 countries in SSA, from years 2000 to 2018, at a 5 × 5-km resolution and presented among second administrative level (typically districts or counties) units.
Results: We found substantial variation in HIV prevalence across localities, ages, and sexes that have been masked in earlier analyses. Within-country variation in prevalence in 2018 was a median 3.5 times greater across ages and sexes, compared to for all adults combined. We note large within-district prevalence differences between age groups: for men, 50% of districts displayed at least a 14-fold difference between age groups with the highest and lowest prevalence, and at least a 9-fold difference for women. Prevalence trends also varied over time; between 2000 and 2018, 70% of all districts saw a reduction in prevalence greater than five percentage points in at least one sex and age group. Meanwhile, over 30% of all districts saw at least a five percentage point prevalence increase in one or more sex and age group.
Conclusions: As the HIV epidemic persists and evolves in SSA, geographic and demographic shifts in prevention and treatment efforts are necessary. These estimates offer epidemiologically informative detail to better guide more targeted interventions, vital for combating HIV in SSA
Whole-genome sequencing of patients with rare diseases in a national health system
- Author
- Abbs Stephen
- Abulhoul Lara
- Adlard Julian
- Ahmed Munaza
- Aitman Timothy J.
- Aitman Timothy J.
- Alachkar Hana
- Allen Hana Lango
- Allen Hana Lango
- Allsup David J.
- Almeida-King Jeff
- Ancliff Philip
- Antrobus Richard
- Armstrong Ruth
- Arno Gavin
- Ashford Sofie
- Ashford Sofie
- Astle William J.
- Astle William J.
- Attwood Anthony
- Aurora Paul
- Babbs Christian
- Bacchelli Chiara
- Bakchoul Tamam
- Banka Siddharth
- Bariana Tadbir
- Barwell Julian
- Batista Joana
- Baxendale Helen E.
- Beales Phil L.
- Bennett David L.
- Bennett David L.
- Bentley David R.
- Bentley David R.
- Bierzynska Agnieszka
- Biss Tina
- Bitner-Glindzicz Maria A.K.
- Black Graeme C.
- Bleda Marta
- Blesneac Iulia
- Bockenhauer Detlef
- Bogaard Harm
- Bourne Christian J.
- Boyce Sara
- Bradley John R.
- Bradley John R.
- Bragin Eugene
- Breen Gerome
- Brennan Paul
- Brewer Carole
- Brod Naomi Clements
- Brown Matthew
- Browning Andrew C.
- Browning Michael J.
- Buchan Rachel J.
- Buckland Matthew S.
- Bueser Teofila
- Burn John
- Burns Siobhan O.
- Burren Oliver S.
- Burren Oliver S.
- Burrows Nigel
- Calleja Paul
- Calleja Paul
- Campbell Carolyn
- Carr-White Gerald
- Carss Keren
- Carss Keren
- Casey Ruth
- Castello Ignacio Medina
- Caulfield Mark J.
- Caulfield Mark J.
- Chambers Jenny
- Chambers John
- Chan Melanie M.Y.
- Cheah Calvin
- Cheng Floria
- Chinnery Patrick F.
- Chinnery Patrick F.
- Chitre Manali
- Christian Martin T.
- Church Colin
- Clayton-Smith Jill
- Cleary Maureen
- Coghlan Gerry
- Colby Elizabeth
- Cole Trevor R.P.
- Collins Janine
- Collins Peter W.
- Colombo Camilla
- Compton Cecilia J.
- Condliffe Robin
- Cook H. Terence
- Cook Stuart
- Cooper Nichola
- Corris Paul A A.
- Cunningham Fiona
- Curry Nicola S.
- Cutler Antony J.
- Daniels Matthew J.
- Dattani Mehul
- Daugherty Louise C.
- Davis John
- De Soyza Anthony
- Deevi Sri V.V.
- Deevi Sri V.V.
- Dent Timothy
- Deshpande Charu
- Dewhurst Eleanor F.
- Dixon Peter H.
- Dixon Peter H.
- Diz Carmen Bugarin
- Douzgou Sofia
- Downes Kate
- Downes Kate
- Drazyk Anna M.
- Drewe Elizabeth
- Duarte Daniel
- Dutt Tina
- Edgar J. David M.
- Edwards Karen
- Egner William
- Ekani Melanie N.
- Elliott Perry
- Erber Wendy N.
- Erwood Marie
- Estiu Maria C.
- Evans Dafydd Gareth
- Evans Gillian
- Everington Tamara
- Eyries Mélanie
- Fassihi Hiva
- Favier Remi
- Findhammer Jack
- Fletcher Debra
- Flinter Frances A.
- Floto R. Andres
- Fowler Tom
- Fox James
- Frary Amy J.
- French Courtney E.
- Freson Kathleen
- Freson Kathleen
- Frontini Mattia
- Frontini Mattia
- Furnell Abigail
- Gale Daniel P.
- Gale Daniel P.
- Gall Henning
- Ganesan Vijeya
- Gattens Michael
- Geet Chris Van
- Geoghegan Claire
- Gerighty Terence S.A.
- Gharavi Ali G.
- Ghio Stefano
- Ghofrani Hossein Ardeschir
- Gibbs J. Simon R.
- Gibson Kate
- Gilmour Kimberly C.
- Girerd Barbara
- Gleadall Nicholas S.
- Goddard Sarah
- Goldstein David B.
- Gomez Keith
- Gordins Pavels
- Gosal David
- Graham Jodie
- Grassi Luigi
- Greene Daniel
- Greene Daniel
- Greenhalgh Lynn
- Greinacher Andreas
- Gresele Paolo
- Griffiths Philip
- Grigoriadou Sofia
- Grocock Russell J.
- Grozeva Detelina
- Gräf Stefan
- Gräf Stefan
- Gurnell Mark
- Hackett Scott
- Hadinnapola Charaka
- Hague Rosie
- Hague William M.
- Haimel Matthias
- Haimel Matthias
- Hall Matthew
- Hanson Helen L.
- Haque Eshika
- Harkness Kirsty
- Harper Andrew R.
- Harris Claire L L.
- Hart Daniel
- Hassan Ahamad
- Hayman Grant
- Henderson Alex
- Herwadkar Archana
- Hoffman Jonathan
- Holden Simon
- Horvath Rita
- Houlden Henry
- Houweling Arjan C C.
- Howard Luke S.
- Hu Fengyuan
- Hudson Gavin
- Hughes Joseph
- Huissoon Aarnoud P.
- Humbert Marc
- Humphray Sean
- Humphray Sean
- Hunter Sarah
- Hurles Matthew
- Irving Melita
- Izatt Louise
- James Roger
- James Roger
- Johnson Sally A.
- Jolles Stephen
- Jolley Jennifer
- Josifova Dragana
- Jurkute Neringa
- Karten Johannes
- Karten Tim
- Kasanicki Mary A.
- Kazkaz Hanadi
- Kazmi Rashid
- Kelleher Peter
- Kelly Anne M.
- Kelsall Wilf
- Kempster Carly
- Kiely David G.
- Kingston Nathalie
- Kingston Nathalie
- Klima Robert
- Koelling Nils
- Kostadima Myrto
- Kovacs Gabor
- Koziell Ania
- Koziell Ania
- Kreuzhuber Roman
- Kuijpers Taco W.
- Kumar Ajith
- Kumararatne Dinakantha
- Kurian Manju A.
- Laffan Michael A.
- Laffan Michael A.
- Lalloo Fiona
- Lambert Michele
- Lawrie Allan
- Layton D. Mark
- Lench Nick
- Lentaigne Claire
- Lester Tracy
- Levine Adam P.
- Levine Adam P.
- Linger Rachel
- Longhurst Hilary
- Lorenzo Lorena E.
- Louka Eleni
- Lyons Paul A.
- Machado Rajiv D.
- MacKenzie Ross Robert V.
- Madan Bella
- Maher Eamonn R.
- Maher Eamonn R.
- Maimaris Jesmeen
- Malka Samantha
- Mangles Sarah
- Mapeta Rutendo
- Mapeta Rutendo
- Marchbank Kevin J.
- Marks Stephen
- Markus Hugh S.
- Markus Hugh S.
- Marschall Hanns Ulrich
- Marshall Andrew
- Martin Jennifer
- Mathias Mary
- Matthews Emma
- Maxwell Heather
- McAlinden Paul
- McCarthy Mark I.
- McKinney Harriet
- McMahon Aoife
- Meacham Stuart
- Mead Adam J.
- Megy Karyn
- Megy Karyn
- Mehta Sarju G G.
- Michaelides Michel
- Millar Carolyn
- Mohammed Shehla N.
- Moledina Shahin
- Montani David
- Moore Anthony T.
- Morales Joannella
- Morales Joannella
- Morrell Nicholas W.
- Morrell Nicholas W.
- Mozere Monika
- Muir Keith W.
- Mumford Andrew D.
- Mumford Andrew D.
- Nemeth Andrea H.
- Newman William G.
- Newnham Michael
- Noorani Sadia
- Nurden Paquita
- Obaji Samya
- Odhams Chris
- Okoli Steven
- Olschewski Andrea
- Olschewski Horst
- Ong Kai Ren
- Oram S. Helen
- Ormondroyd Elizabeth
- Ormondroyd Elizabeth
- Ouwehand Willem H.
- Ouwehand Willem H.
- O’Sullivan Jennifer
- Palles Claire
- Papadia Sofia
- Park Soo Mi
- Parry David
- Patel Smita
- Paterson Joan
- Peacock Andrew
- Pearce Simon H H.
- Peden John
- Peerlinck Kathelijne
- Penkett Christopher J.
- Penkett Christopher J.
- Pepke-Zaba Joanna
- Petersen Romina
- Pilkington Clarissa
- Poole Kenneth E.S.
- Prathalingam Radhika
- Psaila Bethan
- Pyle Angela
- Quinton Richard
- Rahman Shamima
- Rankin Stuart
- Rankin Stuart
- Rao Anupama
- Raymond F. Lucy
- Raymond F. Lucy
- Rayner-Matthews Paula J.
- Rees Christine
- Rendon Augusto
- Rendon Augusto
- Renton Tara
- Rhodes Christopher J.
- Rice Andrew S.C.
- Richardson Sylvia
- Richardson Sylvia
- Richter Alex
- Robert Leema
- Roberts Irene
- Roberts Irene
- Rogers Anthony
- Rose Sarah J.
- Ross-Russell Robert
- Roughley Catherine
- Roy Noemi B.A.
- Roy Noemi B. A
- Ruddy Deborah M.
- Sadeghi-Alavijeh Omid
- Saleem Moin A.
- Saleem Moin A.
- Samani Nilesh
- Samarghitean Crina
- Sanchis-Juan Alba
- Sanchis-Juan Alba
- Sargur Ravishankar B.
- Sarkany Robert N.
- Satchell Simon
- Savic Sinisa
- Sayer Genevieve
- Sayer John A.
- Scelsi Laura
- Schaefer Andrew M.
- Schulman Sol
- Scott Richard
- Scully Marie
- Searle Claire
- Seeger Werner
- Sen Arjune
- Sewell W. A.Carrock
- Seyres Denis
- Shah Neil
- Shamardina Olga
- Shamardina Olga
- Shapiro Susan E.
- Shaw Adam C.
- Short Patrick J.
- Sibson Keith
- Side Lucy
- Simeoni Ilenia
- Simpson Michael A A.
- Sims Matthew C.
- Sivapalaratnam Suthesh
- Smedley Damian
- Smith Katherine R.
- Smith Kenneth G.C.
- Smith Kenneth G.C.
- Snape Katie
- Soranzo Nicole
- Soubrier Florent
- Southgate Laura
- Spasic-Boskovic Olivera
- Staines Simon
- Staples Emily
- Stark Hannah
- Stark Hannah
- Stephens Jonathan
- Stephens Jonathan
- Steward Charles
- Stirrups Kathleen E.
- Stirrups Kathleen E.
- Stuckey Alex
- Suntharalingam Jay
- Swietlik Emilia M.
- Syrris Petros
- Tait R. Campbell
- Talks Kate
- Tan Rhea Y.Y.
- Tan Rhea Y.Y.
- Tate Katie
- Taylor Jenny C.
- Taylor John M.
- Thaventhiran James E.
- Themistocleous Andreas C.
- Themistocleous Andreas C.
- Thomas David
- Thomas Ellen
- Thomas Moira J.
- Thomas Patrick
- Thomson Kate
- Thrasher Adrian J.
- Thrasher Adrian J.
- Threadgold Glen
- Thys Chantal
- Thys Chantal
- Tilly Tobias
- Tischkowitz Marc
- Titterton Catherine
- Todd John A.
- Toh Cheng Hock
- Tolhuis Bas
- Tomlinson Ian P.
- Toshner Mark
- Traylor Matthew
- Treacy Carmen
- Treadaway Paul
- Trembath Richard
- Tuna Salih
- Tuna Salih
- Turek Wojciech
- Turro Ernest
- Turro Ernest
- Twiss Philip
- Vale Tom
- Vandekuilen Maarten
- Vandersteen Anthony M.
- Vazquez-Lopez Marta
- von Ziegenweidt Julie
- Vonk Noordegraaf Anton
- Wagner Annette
- Waisfisz Quinten
- Walker Neil
- Walker Neil
- Walker Suellen M.
- Walter Klaudia
- Ware James S.
- Watkins Hugh
- Watkins Hugh
- Watt Christopher
- Webster Andrew R.
- Webster Andrew R.
- Wedderburn Lucy
- Wei Wei
- Welch Steven B.
- Wessels Julie
- Westbury Sarah K.
- Westwood John Paul
- Wharton John
- Whitehorn Deborah
- Whitworth James
- Whitworth James
- Wilkie Andrew O. M
- Wilkins Martin R.
- Wilkins Martin R.
- Williamson Catherine
- Williamson Catherine
- Wilson Brian T.
- Wong Edwin K.S.
- Wood Nicholas
- Wood Yvette
- Woods Christopher Geoffrey
- Woodward Emma R R.
- Wort Stephen J.
- Worth Austen
- Wright Michael
- Yates Katherine
- Yong Patrick F.K.
- Young Timothy
- Yu Ping
- Yu-Wai-Man Patrick
- Zlamalova Eliska
- Zuydam Natalie van
- Publication venue
- 'Springer Science and Business Media LLC'
- Publication date
- 02/07/2020
- Field of study
No full textMost patients with rare diseases do not receive a molecular diagnosis and the aetiological variants and causative genes for more than half such disorders remain to be discovered1. Here we used whole-genome sequencing (WGS) in a national health system to streamline diagnosis and to discover unknown aetiological variants in the coding and non-coding regions of the genome. We generated WGS data for 13,037 participants, of whom 9,802 had a rare disease, and provided a genetic diagnosis to 1,138 of the 7,065 extensively phenotyped participants. We identified 95 Mendelian associations between genes and rare diseases, of which 11 have been discovered since 2015 and at least 79 are confirmed to be aetiological. By generating WGS data of UK Biobank participants2, we found that rare alleles can explain the presence of some individuals in the tails of a quantitative trait for red blood cells. Finally, we identified four novel non-coding variants that cause disease through the disruption of transcription of ARPC1B, GATA1, LRBA and MPL. Our study demonstrates a synergy by using WGS for diagnosis and aetiological discovery in routine healthcare
Additional file 4 of Mapping age- and sex-specific HIV prevalence in adults in sub-Saharan Africa, 2000–2018
- Author
- A.T. Still University
- Abadan University of Medical Sciences
- Abbastabar Hedayat
- Abhilash E.S.
- Adabi Maryam
- Addis Ababa University
- Adebayo Oladimeji M.
- Adekanmbi Victor
- Adeyinka Daniel Adedayo
- Advanced Diagnostic and Interventional Radiology Research Center
- African Population and Health Research Center
- Afzal Saira
- Ahinkorah Bright Opoku
- Ahmadi Keivan
- Ahmadu Bello University
- Ahmed Muktar Beshir
- Ain Shams University
- Akalu Yonas
- Akinyemi Rufus Olusola
- Akunna Chisom Joyqueenet
- Al Shifa Trust Eye Hospital
- Alahdab Fares
- Alanezi Fahad Mashhour
- Alanzi Turki M.
- Alene Kefyalew Addis
- Alex Ekwueme Federal University Teaching Hospital Abakaliki
- Alexandria University
- Alhassan Robert Kaba
- Alipour Vahid
- All India Institute of Medical Sciences
- All India Institute of Medical Sciences
- Almasi-Hashiani Amir
- Alvis-Guzman Nelson
- Ameyaw Edward Kwabena
- Amini Saeed
- Amugsi Dickson A.
- An-Najah National University
- Ancuceanu Robert
- Anvari Davood
- Appiah Seth Christopher Yaw
- Arabloo Jalal
- Arak University of Medical Sciences
- Arba Minch University
- Aremu Olatunde
- Arthritis Research Canada
- Asemahagn Mulusew A.
- Autonomous University of Sinaloa
- Awedew Atalel Fentahun
- Ayanore Martin Amogre
- Aynalem Yared Asmare
- Azari Samad
- Azene Zelalem Nigussie
- Babalola Tesleem Kayode
- Babol University of Medical Sciences
- Bahir Dar University
- Baig Atif Amin
- Bali Ahmed Omar
- Banach Maciej
- Banaras Hindu University
- Bell Arielle Wilder
- Bhagavathula Akshaya Srikanth
- Bhardwaj Nikha
- Bhardwaj Pankaj
- Bhattacharyya Krittika
- Bijani Ali
- Birmingham City University
- Bitew Zebenay Workneh
- Bohlouli Somayeh
- Bolarinwa Obasanjo Afolabi
- Boloor Archith
- Boston University
- Bournemouth University
- Bozicevic Ivana
- BRAC University
- Brighton and Sussex Medical School
- Butt Zahid A.
- Bärnighausen Till Winfried
- Cairo University
- Cairo University
- Carvalho Felix
- Case Western Reserve University
- Center for Health Outcomes & Evaluation
- Centre for Health Policy Advocacy Innovation & Research in Africa (CHPAIR-Africa)
- Centre for Healthy Start Initiative
- Centro de Investigación Biomédica En Red de Salud Mental
- Charan Jaykaran
- Charité Universitätsmedizin Berlin
- Charles University
- Chattu Vijay Kumar
- China Medical University
- Chowdhury Mohiuddin Ahsanul Kabir
- Chu Dinh-Toi
- Clarendon Laboratory
- Cleveland Clinic Lerner Research Institute
- Clinical Research Department IRCCS Fondazione Don Carlo Gnocchi
- College of Agriculture and Veterinary Sciences
- College of Medicine University of Ibadan
- Community Development
- Community Prevention and Care Services National AIDS Control Committee
- Cork Michael A.
- Cowden Richard G.
- Curtin University
- Cárdenas Rosario
- Dahlawi Saad M. A.
- Damiani Giovanni
- Darshan B.B.
- Darteh Eugene Kofuor Maafo
- Darwesh Aso Mohammad
- das Neves José
- Datta Meghe Institute of Medical Sciences (Deemed University)
- De Leo Diego
- De Neve Jan-Walter
- Debre Berhan University
- Defo Barthelemy Kuate
- Department No.16 Moscow Research and Practical Centre on Addictions
- Department of Clinical Neuroscience
- Department of Public Health Federal Ministry of Health
- Department of Public Health Ministry of Health
- Department of Research and Analytics Bioinsilico Technologies
- Department of Veterans Affairs Medical Center
- Deribe Kebede
- Deuba Keshab
- Development of Research and Technology Center
- Dharmaratne Samath
- Dianatinasab Mostafa
- Diaz Daniel
- Didarloo Alireza
- Djalalinia Shirin
- Dorostkar Fariba
- Dr. Baba Saheb Ambedkar Medical College & Hospital
- Dr. Zora Profozic Polyclinic
- Drug Applied Research Center Tabriz University of Medical Sciences
- Dubljanin Eleonora
- Duko Bereket
- Duy Tan University
- Dwyer-Lindgren Laura
- El Tantawi Maha
- El-Jaafary Shaimaa I.
- Emergency Hospital of Bucharest
- Eshrati Babak
- Eskandarieh Sharareh
- Eyawo Oghenowede
- Ezeonwumelu Ifeanyi Jude
- Ezzikouri Sayeh
- Faculteit Medische Wetenschappen/UMCG
- Farzadfar Farshad
- Father Muller Medical College
- Fattahi Nazir
- Fauk Nelsensius Klau
- Federal Institute of Education
- Federal Ministry of Health
- Fernandes Eduarda
- Filip Irina
- Fischer Florian
- Flinders University
- Flinders University of South Australia
- Foigt Nataliya A.
- Foroutan Masoud
- Foundation University Medical College
- Frankfurt University of Applied Sciences
- Fukumoto Takeshi
- Gad Mohamed M.
- Gaidhane Abhay Motiramji
- Gebregiorgis Birhan Gebresillassie
- Gebremedhin Ketema Bizuwork
- Getacher Lemma
- Ghadiri Keyghobad
- Ghashghaee Ahmad
- Global Center for Research and Development
- Golechha Mahaveer
- Griffith University
- Gubari Mohammed Ibrahim Mohialdeen
- Gugnani Harish Chander
- Guilan University of Medical Sciences
- Guilan University of Medical Sciences
- Guimarães Rafael Alves
- Haeuser Emily
- Haider Mohammad Rifat
- Haj-Mirzaian Arvin
- Hamad Medical Corporation
- Hamadan University of Medical Sciences
- Hamdan Bin Mohammed Smart University
- Hamidi Samer
- Haramaya University
- Harvard School of Public Health
- Harvard University
- Hashi Abdiwahab
- Hassanipour Soheil
- Hassankhani Hadi
- Hawassa University
- Hay Simon I.
- Hayat Khezar
- Health Policy Research Public Health Foundation of India
- Health Services Academy
- Helsinki University Central Hospital
- Herteliu Claudiu
- Ho Hung Chak
- Holla Ramesh
- Hosei University
- Hosseini Mostafa
- Hosseinzadeh Mehdi
- HUTECH University
- Hwang Bing-Fang
- Ibitoye Segun Emmanuel
- Icahn School of Medicine at Mount Sinai
- ICMR–National Centre for Disease Informatics and Research
- ICREA
- Ilesanmi Olayinka Stephen
- Ilic Irena M.
- Ilic Milena D.
- Imam Abdulrahman Bin Faisal university
- Imperial College
- Independent Consultant
- Initiative for Financing Health and Human Development
- Institut Pasteur du Maroc
- Institute for Health Metrics and Evaluation
- Institute of Human Virology Nigeria
- Institute of Medical Sciences
- Institute of Resource Governance and Social Change
- Instituto de Astronomia Geofìsica e Ciências Atmosféricas, Universidade de São Paulo
- Intercountry Centre for Oral Health for Africa
- Iran University of Medical Sciences
- Iran University of Medical Sciences
- Iranshahr University of Medical Sciences
- IRCCS Instituto Ortopedico Galeazzi
- IrsiCaixa AIDS Research Institute
- Islam Rakibul M.
- Islamic Azad University Kermanshah Branch
- Iwu Chidozie C. D.
- Jafarabadi Mohammad Asghari
- Jagadguru Sri Shivarathreeswara Academy of Health Education and Research
- Jakovljevic Mihajlo
- James Cook University Australia
- Jatiya Kabi Kazi Nazrul Islam University
- Jha Ravi Prakash
- Ji John S.
- Jigjiga University
- Jimma University
- Johnson Kimberly B.
- Joseph Nitin
- Joshua Vasna
- Joukar Farahnaz
- Jozwiak Jacek Jerzy
- Juntendo University
- Kafil Hossein Samadi
- Kalankesh Leila R.
- Kalhor Rohollah
- Kamyari Naser
- Kan Fatemeh Pashazadeh
- Kanchan Tanuj
- Karimi Salah Eddin
- Karyani Ali Kazemi
- Kasturba Medical College Mangalore
- Kayode Gbenga A.
- Keramati Maryam
- Kermanshah University of Medical Sciences
- Khan Ejaz Ahmad
- Khan Gulfaraz
- Khan Md Nuruzzaman
- Khatab Khaled
- Khomein University of Medical Sciences
- Khubchandani Jagdish
- Kim Yun Jin
- King Abdullah University of Science and Technology
- King Edward Memorial Hospital
- King Saud University
- King's College London
- Kisa Adnan
- Kisa Sezer
- Kobe University
- Kopec Jacek A.
- Kosen Soewarta
- Koyanagi Ai
- Krishan Kewal
- Kristiania University College
- Kugbey Nuworza
- Kulkarni Vaman
- Kumar Manasi
- Kumar Nithin
- Kurdistan University of Medical Sciences
- Kursk State Medical University
- Kusuma Dian
- Kwame Nkrumah University of Science and Technology
- La Trobe University
- La Vecchia Carlo
- Lal Dharmesh Kumar
- Landires Iván
- Larson Heidi Jane
- Lasrado Savita
- Laxminarayana Sindhura Lakshmi Koulmane
- Lee Paul H.
- Li Shanshan
- Liu Xuefeng
- London School of Hygiene & Tropical Medicine
- London South Bank University
- Ludwig-Maximilians Universität München (LMU)
- Maastricht University Medical Centre
- Macquarie University
- Madda Walabu University
- Mahesh P.A.
- Makerere University
- Maleki Afshin
- Malik Preeti
- Manipal Academy of Higher Education
- Mansournia Mohammad Ali
- Martins-Melo Francisco Rogerlândio
- Mashhad University of Medical Sciences
- Matin Behzad Karami
- Mayo Clinic
- Mazandaran University of Medical Sciences
- McGill University
- McMaster University.
- Media and Cultural Studies
- Medical University of Lodz
- Mendoza Walter
- Menezes Ritesh G.
- Mengesha Endalkachew Worku
- Meretoja Tuomo J.
- Mestrovic Tomislav
- Microbes in Health and Disease (MHD)
- Ministry of Health
- Mirica Andreea
- Mizan-Tepi University
- Moazen Babak
- Modestum LTD
- Moghaddam Sahar Saeedi
- Mohamad Osama
- Mohammad Yousef
- Mohammadian-Hafshejani Abdollah
- Mohammadpourhodki Reza
- Mohammed VI Polytechnic University (UM6P)
- Mohammed Salahuddin
- Mohammed Shafiu
- Mokdad Ali H.
- Monash University
- Monash University
- Montefiore Medical Center
- Moradi Masoud
- Moraga Paula
- Moscow Institute of Physics and Technology
- Mubarik Sumaira
- Mulu Getaneh Baye B.
- Murdoch Childrens Research Institute
- Mwanri Lillian
- Nagarajan Ahamarshan Jayaraman
- Naimzada Mukhammad David
- National Academy of Medical Sciences of Ukraine
- National Center for Neurology and Psychiatry
- National Hospital Abuja
- National Institute for Medical Research Tanga
- National Institute of Biomedical Genomics
- National Institute of Infectious Diseases
- National Research University Higher School of Economics
- National Yunlin University of Science and Technology
- Naveed Muhammad
- Nazari Javad
- Ndejjo Rawlance
- Negoi Ionut
- Nepal Health Research Council
- Network of Immunity in Infection Malignancy and Autoimmunity (NIIMA), Universal Scientific Education and Research Network (USERN)
- New Mexico State University
- New York University
- Newcastle University
- Ngalesoni Frida N.
- Nguefack-Tsague Georges
- Ngunjiri Josephine W.
- Nguyen Tat Thanh University
- Nguyen Cuong Tat
- Nguyen Huong Lan Thi
- Nnaji Chukwudi A.
- Northeastern University
- Noubiap Jean Jacques
- Nuffield Department of Medicine
- Nuñez-Samudio Virginia
- Nwatah Vincent Ebuka
- Oancea Bogdan
- Odukoya Oluwakemi Ololade
- Ohio University
- Olagunju Andrew T.
- Olakunde Babayemi Oluwaseun
- Olusanya Bolajoko Olubukunola
- Olusanya Jacob Olusegun
- Onwujekwe Obinna E.
- Orisakwe Orish Ebere
- Osaka International Cancer Institute
- OsloMet – storbyuniversitetet
- Otstavnov Nikita
- Otstavnov Stanislav S.
- Owolabi Mayowa O.
- Padubidri Jagadish Rao
- Pana Adrian
- Pandey Ashok
- Pandi-Perumal Seithikurippu R.
- Panjab University
- Patton George C.
- Pawar Shrikant
- Peprah Emmanuel K.
- Peru Country Office United Nations Population Fund (UNFPA)
- Pirogov Russian National Research Medical University (RNRMU)
- Pohang University of Science and Technology
- Policy Research Institute
- Polish Mothers' Memorial Hospital Research Institute
- Postma Maarten J.
- Preotescu Liliana
- Public Health England
- Public Health Institute
- Qazvin University of Medical Sciences
- Quintanilla Beatriz Paulina Ayala
- Rabiee Navid
- Radfar Amir
- Rafiei Alireza
- Rahim Fakher
- Rahimi-Movaghar Vafa
- Rahmani Amir Masoud
- Rajarata University of Sri Lanka
- Ramezanzadeh Kiana
- Rana Juwel
- Ranabhat Chhabi Lal
- Rao Sowmya J.
- Rawaf David Laith
- Rawaf Salman
- Rawassizadeh Reza
- Real World Studies in PharmacoEpidemiology -Genetics, -Economics and -Therapy (PEGET)
- Regassa Lemma Demissie
- Research Center for Immunodeficiencies
- Research Department Public Health Research Society Nepal
- Rezaei Nima
- Rezapour Aziz
- Riaz Mavra A.
- Ribeiro Ana Isabel
- Ross Jennifer M.
- Rubagotti Enrico
- Rumisha Susan Fred
- Russian Medical Academy of Continuous Professional Education
- Rwegerera Godfrey M.
- Sagar Rajesh
- Sahiledengle Biniyam
- Sahu Maitreyi
- Saint James School of Medicine
- Salem Marwa Rashad
- Samy Abdallah M.
- San Martin de Porres University
- Sartorius Benn
- Sathian Brijesh
- Save the Children
- Saveetha Medical College and Hospital
- Seidu Abdul-Aziz
- Serfes Audrey L.
- Shaheen Amira A.
- Shahid Beheshti University of Medical Sciences
- Shahrekord University of Medical Sciences
- Shaikh Masood Ali
- Shamsizadeh Morteza
- Sharavathi Dental College and Hospital
- Sheffield Hallam University
- Shiferaw Wondimeneh Shibabaw
- Shin Jae Il
- Shiraz University of Medical Sciences
- Shrestha Roman
- Singh Jasvinder A.
- Skryabin Valentin Yurievich
- Skryabina Anna Aleksandrovna
- Soltani Shahin
- South African Medical Research Council
- South Asian Institute for Social Transformation (SAIST)
- Southern California Kaiser Permanente Medical Group
- Sree Narayana Guru College Chelannur
- St Paul's Hospital Millennium Medical College
- St. Petersburg Stt. Tech. University
- Sufiyan Mu’awiyyah Babale
- Sultan Zainal Abidin University (Universiti Sultan Zainal Abidin)
- Syed Zahiruddin Quazi
- Tabriz University of Medical Sciences
- Tabuchi Takahiro
- Tadesse Eyayou Girma
- Taveira Nuno
- Tehran University of Medical Sciences
- Telethon Kids Institute
- Tesfay Fisaha Haile
- Thapar Rekha
- Torrens University Australia
- Tovani-Palone Marcos Roberto
- Tsegaye Gebiyaw Wudie
- Tsinghua University
- TU Berlin
- Tufts Medical Center
- Tulane University
- Umeokonkwo Chukwuma David
- United Arab Emirates University
- Universidad Autónoma Metropolitana
- Universidad de la Costa
- Universidad Icesi
- Universidad Nacional Autónoma de México
- Universidade do Porto
- Universidade Federal de Goias
- Universitas Indonesia
- Universitat Autònoma de Barcelona
- University College Hospital Ibadan
- University College London Hospitals NHS Trust
- University Institute “Egas Moniz”
- University Medical Center Utrecht
- University North
- University of Adelaide
- University of Alabama Birmingham
- University of Belgrade
- University of Bologna
- University of Borås
- University of Botswana
- University of British Columbia
- University of Bucharest
- University of Calcutta
- University of California San Francisco
- University of Cape Coast Ghana
- University of Cape Town
- University of Cartagena
- University of Central Florida
- University of Central Punjab
- University of College London
- University of Economic Studies
- University of Embu
- University of Environment and Sustainable Development
- University of Georgia
- University of Gondar
- University of Groningen
- University of Health and Allied Sciences Ghana
- University of Heidelberg
- University of Helsinki
- University of Hong Kong
- University of Human Development
- University of Ibadan
- University of Kragujevac
- University of KwaZulu-Natal
- University of Lagos
- University of Leicester
- University of Lisbon (FMV-UTL)
- University of Liverpool
- University of Medicine
- University of Mekelle
- University of Melbourne
- University of Mississippi
- University of Montreal
- University of Nigeria
- University of North Carolina
- University of Opole
- University of Ottawa
- University of Peradeniya
- University of Port Harcourt
- University of Pretoria
- University of Saskatchewan
- University of South Australia
- University of South Carolina
- University of Sulaimaniya
- University of Technology Sydney
- University of the Free State
- University of Utah
- University of Veterinary and Animal Sciences Lahore
- University of Washington School of Medicine
- University of Washington Seattle
- University of Waterloo
- University of Yaoundé I
- University of Zagreb
- Università degli Studi di Milano
- Università di Bologna
- Unnikrishnan Bhaskaran
- Urmia University of Medical Sciences
- Value Affordability and Sustainability (VALUE)
- Villafañe Jorge Hugo
- Violante Francesco S.
- VNU-International School
- Vo Bay
- Vu Giang Thu
- Wado Yohannes Dibaba
- Waheed Yasir
- Wamai Richard G.
- Wang Yanzhong
- Ward Paul
- Weaver Nicole Davis
- Wickramasinghe Nuwan Darshana
- Wilson Katherine
- Wuhan University
- Wuhan University of Science and Technology
- Xi'an Jiaotong University
- Xiamen University
- Yale University
- Yale University School of Medicine
- Yang Mingyou
- Yaya Sanni
- Yip Paul
- Yonemoto Naohiro
- Yonsei University
- York University
- Yu Chuanhua
- Zanjan University of Medical Sciences (ZUMS)
- Zastrozhin Mikhail Sergeevich
- Zhang Yunquan
- Zhang Zhi-Jiang
- Publication venue
- figshare
- Publication date
- 01/01/2023
- Field of study
No full textAdditional file 4: Supplemental results.1. README. 2. Prevalence range across districts. 3. Prevalence range between sexes. 4. Prevalence range between ages. 5. Age-specific district ranges
Whole-genome sequencing reveals host factors underlying critical COVID-19
- Author
- Abd Elghafar Mohamed S.
- Abdel-Aziz Mahmoud
- Abdelrazik Marwa
- Abdollahi Hamed
- Abdullah T.
- Abecasis Goncalo
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- Wrobel Nicola
- Wu Yang
- Wulandari R.
- Wyllie D.H.
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- Xavier Kugan
- Xue X.
- Yadav A.
- Yang Jian
- Yassen Amr M.
- Yates Brian
- Ye C.
- Yun Nikki
- Zainy Tala
- Zak Anne
- Zaki Ahmed
- Zamikula J.
- Zanella I.
- Zborowski A.C.
- Zeberg Hugo
- Zechner Marie
- Zguro K.
- Zhang M.
- Zhao J.H.
- Zheng Chenqing
- Zhou W.
- Zitter L.
- Zlatopolsky Menachem
- Zongo Olivier
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- Zyndorf Marissa
- Zöllner S.
- Åsvold Bjørn Olav
- Publication venue
- Publication date
- 01/01/2022
- Field of study
No full textAltres ajuts: Department of Health and Social Care (DHSC); Illumina; LifeArc; Medical Research Council (MRC); UKRI; Sepsis Research (the Fiona Elizabeth Agnew Trust); the Intensive Care Society, Wellcome Trust Senior Research Fellowship (223164/Z/21/Z); BBSRC Institute Program Support Grant to the Roslin Institute (BBS/E/D/20002172, BBS/E/D/10002070, BBS/E/D/30002275); UKRI grants (MC_PC_20004, MC_PC_19025, MC_PC_1905, MRNO2995X/1); UK Research and Innovation (MC_PC_20029); the Wellcome PhD training fellowship for clinicians (204979/Z/16/Z); the Edinburgh Clinical Academic Track (ECAT) programme; the National Institute for Health Research, the Wellcome Trust; the MRC; Cancer Research UK; the DHSC; NHS England; the Smilow family; the National Center for Advancing Translational Sciences of the National Institutes of Health (CTSA award number UL1TR001878); the Perelman School of Medicine at the University of Pennsylvania; National Institute on Aging (NIA U01AG009740); the National Institute on Aging (RC2 AG036495, RC4 AG039029); the Common Fund of the Office of the Director of the National Institutes of Health; NCI; NHGRI; NHLBI; NIDA; NIMH; NINDS.Critical COVID-19 is caused by immune-mediated inflammatory lung injury. Host genetic variation influences the development of illness requiring critical care or hospitalization after infection with SARS-CoV-2. The GenOMICC (Genetics of Mortality in Critical Care) study enables the comparison of genomes from individuals who are critically ill with those of population controls to find underlying disease mechanisms. Here we use whole-genome sequencing in 7,491 critically ill individuals compared with 48,400 controls to discover and replicate 23 independent variants that significantly predispose to critical COVID-19. We identify 16 new independent associations, including variants within genes that are involved in interferon signalling (IL10RB and PLSCR1), leucocyte differentiation (BCL11A) and blood-type antigen secretor status (FUT2). Using transcriptome-wide association and colocalization to infer the effect of gene expression on disease severity, we find evidence that implicates multiple genes-including reduced expression of a membrane flippase (ATP11A), and increased expression of a mucin (MUC1)-in critical disease. Mendelian randomization provides evidence in support of causal roles for myeloid cell adhesion molecules (SELE, ICAM5 and CD209) and the coagulation factor F8, all of which are potentially druggable targets. Our results are broadly consistent with a multi-component model of COVID-19 pathophysiology, in which at least two distinct mechanisms can predispose to life-threatening disease: failure to control viral replication; or an enhanced tendency towards pulmonary inflammation and intravascular coagulation. We show that comparison between cases of critical illness and population controls is highly efficient for the detection of therapeutically relevant mechanisms of disease
