9 research outputs found
Quality of Life is Essential: Implications for Diagnosis and Treatment for BRCA1/2 Germline Mutations
- Author
- Publication venue
- 'IntechOpen'
- Publication date
- 18/01/2023
- Field of study
BRCA1 and BRCA2 germline pathogenic variants are a matter of concern because of their relevance in cancer risk assessment, personalized treatment options, and cancer prevention. Therefore, the study of quality of life (QoL), although complex, has been a challenge for clinical care and research implications for patients and families with hereditary breast and ovarian cancer (HBOC). This chapter aims to show the evolution of the evaluation of the QoL study according to the current needs of patients with BRCA1/BRCA2 mutations
Expanded encyclopaedias of DNA elements in the human and mouse genomes
- Author
- Abascal Federico
- Acosta Reyes
- Addleman Nicholas J.
- Adrian Jessika
- Adrian Jessika
- Afzal Veena
- Ai Rizi
- Aken Bronwen
- Akiyama Jennifer A.
- Amrhein Henry
- Anderson Stacie M.
- Andrews Gregory R.
- Antoshechkin Igor
- Ardlie Kristin G.
- Armstrong Joel
- Astley Matthew
- Banerjee Budhaditya
- Barkal Amira A.
- Barnes If H. A.
- Barozzi Iros
- Barrell Daniel
- Barson Gemma
- Bates Daniel
- Baymuradov Ulugbek K.
- Bazile Cassandra
- Beer Michael A.
- Beik Samantha
- Bender M. A.
- Bennett Ruth
- Bernstein Bradley E.
- Bernstein Bradley E.
- Berry Andrew
- Bhaskar Anand
- Biber Benjamin Van
- Bignell Alexandra
- Blue Steven M.
- Bodine David M.
- Boix Carles
- Boley Nathan
- Borrman Tyler
- Borsari Beatrice
- Bouvrette Louis Philip Benoit
- Boyle Alan P.
- Brandsmeier Laurel A.
- Breschi Alessandra
- Bresnick Emery H.
- Brooks Jason A.
- Buckley Michael
- Burge Christopher B.
- Burge Christopher B.
- Byron Rachel
- Cahill Eileen
- Cai Lingling
- Cao Lulu
- Carty Mark
- Castanon Rosa G.
- Castillo Andres
- Chaib Hassan
- Chan Esther T.
- Chee Daniel R.
- Chee Sora
- Chen Hao
- Chen Huaming
- Chen Jia-Yu
- Chen Songjie
- Cherry J. Michael
- Cherry J. Michael
- Chhetri Surya B.
- Chhetri Surya B.
- Choudhary Jyoti S.
- Chrast Jacqueline
- Chung Dongjun
- Clarke Declan
- Cody Neal A. L.
- Coppola Candice J.
- Coursen Julie
- Dalton Stephen
- Danyko Cassidy
- Davidson Claire
- Davila-Velderrain Jose
- Davis Carrie A.
- Davis Carrie A.
- Dekker Job
- Dekker Job
- Deran Alden
- DeSalvo Gilberto
- Despacio-Reyes Gloria
- Dewey Colin N.
- Dickel Diane E.
- Dickel Diane E.
- Diegel Morgan
- Diekhans Mark
- Dileep Vishnu
- Ding Bo
- Djebali Sarah
- Dobin Alexander
- Dobin Alexander
- Dominguez Daniel
- Donaldson Sarah
- Drenkow Jorg
- Dreszer Timothy R.
- Drier Yotam
- Duff Michael O.
- Dunn Douglass
- D’Ippolito Anthony M.
- Eastman Catharine
- Ecker Joseph R.
- Ecker Joseph R.
- Edwards Matthew D.
- El-Ali Nicole
- Elhajjajy Shaimae I.
- Elhajjajy Shaimae I.
- Elkins Keri
- Emili Andrew
- Epstein Charles B.
- Epstein Charles B.
- Evans Rachel C.
- Ezkurdia Iakes
- Fan Kaili
- Farnham Peggy J.
- Farnham Peggy J.
- Farrell Nina P.
- Feingold Elise A.
- Ferreira Anne-Maud
- Fisher-Aylor Katherine
- Fitzgerald Stephen
- Flicek Paul
- Foo Chuan Sheng
- Fortier Kevin
- Frankish Adam
- Freese Peter
- Freese Peter
- Fu Shaliu
- Fu Xiang-Dong
- Fu Yu
- Fukuda-Yuzawa Yoko
- Fulciniti Mariateresa
- Funnell Alister P. W.
- Gabdank Idan
- Galeev Timur
- Gao Mingshi
- Garvin Tyler H.
- Gelboin-Burkhart Chelsea Anne
- Georgolopoulos Grigorios
- Gerstein Mark B.
- Gerstein Mark B.
- Giardine Belinda M.
- Gifford David K.
- Gilbert David M.
- Gilbert David M.
- Gilchrist Daniel A.
- Gillespie Shawn
- Gingeras Thomas R.
- Gingeras Thomas R.
- Giron Carlos Garcia
- Gong Peng
- Gonzalez Alvaro
- Gonzalez Jose M.
- Good Peter
- Goren Alon
- Gorkin David U.
- Gorkin David U.
- Graveley Brenton R.
- Graveley Brenton R.
- Gray Michael
- Greenblatt Jack F.
- Griffiths Ed
- Groudine Mark T.
- Grubert Fabian
- Gu Mengting
- Guigó Roderic
- Guigó Roderic
- Guo Hongbo
- Guo Yu
- Guo Yuchun
- Gursoy Gamze
- Gutierrez-Arcelus Maria
- Halow Jessica
- Halow Jessica
- Hardison Ross C.
- Hardison Ross C.
- Hardy Matthew
- Hariharan Manoj
- Harmanci Arif
- Harrington Anne
- Harrow Jennifer L.
- Hashimoto Tatsunori B.
- Hasz Richard D.
- Hatan Meital
- Haugen Eric
- Hayes James E.
- He Peng
- He Yupeng
- He Yupeng
- Heidari Nastaran
- Hendrickson David
- Heuston Elisabeth F.
- Hilton Jason A.
- Hitz Benjamin C.
- Hochman Abigail
- Holgren Cory
- Hou Lei
- Hou Shuyu
- Hsiao Yun-Hua E.
- Hsu Shanna
- Huang Hui
- Hubbard Tim J.
- Huey Jack
- Huey Jack
- Hughes Timothy R.
- Hunt Toby
- Ibarrientos Sean
- Issner Robbyn
- Iwata Mineo
- Izuogu Osagie
- Jaakkola Tommi
- Jameel Nader
- Jammal Omar Al
- Jansen Camden
- Jiang Lixia
- Jiang Peng
- Johnson Audra
- Johnson Rory
- Jungreis Irwin
- Kadaba Madhura
- Kasowski Maya
- Kasparian Mary
- Kato Momoe
- Kaul Rajinder
- Kaul Rajinder
- Kawli Trupti
- Kawli Trupti
- Kay Michael
- Keen Judith C.
- Keles Sunduz
- Keller Cheryl A.
- Keller Cheryl A.
- Kelley David
- Kellis Manolis
- Kellis Manolis
- Kheradpour Pouya
- Kim Daniel Sunwook
- Kirilusha Anthony
- Klein Robert J.
- Klein Robert J.
- Knoechel Birgit
- Kuan Samantha
- Kulik Michael J.
- Kumar Sushant
- Kundaje Anshul
- Kundaje Anshul
- Kutyavin Tanya
- Lagarde Julien
- Lajoie Bryan R.
- Lambert Nicole J.
- Lazar John
- Lee Ah Young
- Lee Donghoon
- Lee Elizabeth
- Lee Jin Wook
- Lee Kristen
- Leslie Christina S.
- Levy Shawn
- Li Bin
- Li Hairi
- Li Nan
- Li Shantao
- Li Xiangrui
- Li Yang I.
- Li Ying
- Li Yining
- Li Yue
- Lian Jin
- Libbrecht Maxwell W.
- Lin Shin
- Lin Yiing
- Liu Dianbo
- Liu Jason
- Liu Peng
- Liu Tingting
- Liu X. Shirley
- Liu Yan
- Liu Yaping
- Long Maria
- Lou Shaoke
- Loveland Jane
- Lu Aiping
- Lu Yuheng
- Lécuyer Eric
- Lécuyer Eric
- Ma Lijia
- Mackiewicz Mark
- Mackiewicz Mark
- Mannion Brandon J.
- Mannstadt Michael
- Manthravadi Deepa
- Marinov Georgi K.
- Martin Fergal J.
- Mattei Eugenio
- McCue Kenneth
- McEown Megan
- McVicker Graham
- Meadows Sarah K.
- Meissner Alex
- Mendenhall Eric M.
- Mendenhall Eric M.
- Messer Christopher L.
- Meuleman Wouter
- Meyer Clifford
- Miller Steve
- Milton Matthew G.
- Mishra Tejaswini
- Moore Dianna E.
- Moore Helen M.
- Moore Jill E.
- Moore Jill E.
- Moore Samuel H.
- Moran Jennifer
- Mortazavi Ali
- Mortazavi Ali
- Mudge Jonathan M.
- Munshi Nikhil
- Murad Rabi
- Myers Richard M.
- Myers Richard M.
- Nandakumar Vivek
- Nandi Preetha
- Narasimha Anil M.
- Narayanan Aditi K.
- Naughton Hannah
- Navarro Fabio C. P.
- Navas Patrick
- Nazarovs Jurijs
- Nelson Jemma
- Neph Shane
- Neri Fidencio Jun
- Nery Joseph R.
- Nesmith Amy R.
- Newberry J. Scott
- Newberry Kimberly M.
- Ngo Vu
- Nguyen Rosy
- Nguyen Thai B.
- Nguyen Tung
- Nishida Andrew
- Noble William S.
- Noble William S.
- Novak Catherine S.
- Novoa Eva Maria
- Nuñez Briana
- Olson Sara
- Onate Kathrina C.
- Otterman Ericka
- Ozadam Hakan
- O’Donnell Charles W.
- Pagan Michael
- Palden Tsultrim
- Pan Xinghua
- Park Yongjin
- Partridge E. Christopher
- Paten Benedict
- Pauli-Behn Florencia
- Pauli-Behn Florencia
- Pazin Michael J.
- Pei Baikang
- Pennacchio Len A.
- Pennacchio Len A.
- Perez Alexander R.
- Perry Emily H.
- Pervouchine Dmitri D.
- Phalke Nishigandha N.
- Pham Quan
- Phanstiel Doug H.
- Plajzer-Frick Ingrid
- Pratt Gabriel A.
- Pratt Henry E.
- Pratt Henry E.
- Preissl Sebastian
- Pritchard Jonathan K.
- Pritykin Yuri
- Purcaro Michael J.
- Purcaro Michael J.
- Qin Qian
- Quinones-Valdez Giovanni
- Rabano Ines
- Radovani Ernest
- Raj Anil
- Rajagopal Nisha
- Ram Oren
- Ramirez Lucia
- Ramirez Ricardo N.
- Rausch Dylan
- Raychaudhuri Soumya
- Raymond Joseph
- Razavi Rozita
- Reddy Timothy E.
- Reimonn Thomas M.
- Ren Bing
- Ren Bing
- Reymond Alexandre
- Reynolds Alex
- Rhie Suhn K.
- Rinn John
- Rinn John
- Rivera Miguel
- Rivera-Mulia Juan Carlos
- Rivera-Mulia Juan Carlos
- Roberts Brian S.
- Rodriguez Jose Manuel
- Rozowsky Joel
- Rozowsky Joel
- Ryan Russell
- Rynes Eric
- Salins Denis N.
- Sandstrom Richard
- Sasaki Takayo
- Sathe Shashank
- Savic Daniel
- Scavelli Alexandra
- Scheiman Jonathan
- Schlaffner Christoph
- Schloss Jeffery A.
- Schmitges Frank W.
- See Lei Hoon
- Sethi Anurag
- Setty Manu
- Shafer Anthony
- Shan Shuo
- Sharon Eilon
- Shen Quan
- Shen Yin
- Shen Yin
- Sherwood Richard I.
- Shi Minyi
- Shin Sunyoung
- Shoresh Noam
- Shoresh Noam
- Siebenthall Kyle
- Sisu Cristina
- Slifer Teri
- Sloan Cricket A.
- Smith Anna
- Snetkova Valentina
- Snetkova Valentina
- Snyder Michael P.
- Snyder Michael P.
- Spacek Damek V.
- Srinivasan Sharanya
- Srivas Rohith
- Stamatoyannopoulos George
- Stamatoyannopoulos John A.
- Stamatoyannopoulos John A.
- Stanton Rebecca
- Steffan Dave
- Stehling-Sun Sandra
- Strattan J. Seth
- Su Amanda
- Sundararaman Balaji
- Suner Marie-Marthe
- Syed Tahin
- Szynkarek Matt
- Tanaka Forrest Y.
- Tenen Danielle
- Teng Mingxiang
- Thomas Jeffrey A.
- Toffey Dave
- Tress Michael L.
- Trout Diane E.
- Trynka Gosia
- Tsuji Junko
- Upchurch Sean A.
- Ursu Oana
- Uszczynska-Ratajczak Barbara
- Uziel Mia C.
- Valencia Alfonso
- van der Velde Arjan G.
- Van Nostrand Eric L.
- Van Nostrand Eric L.
- Vaydylevich Yekaterina
- Vazquez Jesus
- Victorsen Alec
- Victorsen Alec
- Vielmetter Jost
- Vierstra Jeff
- Visel Axel
- Visel Axel
- Vlasova Anna
- Vockley Christopher M.
- Volpi Simona
- Vong Shinny
- Wang Hao
- Wang Mengchi
- Wang Qin
- Wang Ruth
- Wang Tao
- Wang Wei
- Wang Xiaofeng
- Wang Xiaofeng
- Wang Yanli
- Watson Nathaniel K.
- Wei Xintao
- Wei Xintao
- Wei Zhijie
- Weisser Hendrik
- Weissman Sherman M.
- Welch Rene
- Welikson Robert E.
- Weng Zhiping
- Weng Zhiping
- Westra Harm-Jan
- Whitaker John W.
- White Collin
- White Kevin P.
- White Kevin P.
- Wildberg Andre
- Williams Brian A.
- Williams Brian A.
- Wine David
- Witt Heather N.
- Wold Barbara
- Wold Barbara
- Wolf Maxim
- Wright James
- Xiao Rui
- Xiao Xinshu
- Xu Jie
- Xu Jinrui
- Yan Koon-Kiu
- Yan Yongqi
- Yang Hongbo
- Yang Xinqiong
- Yang Yi-Wen
- Yardımcı Galip Gürkan
- Yee Brian A.
- Yeo Gene W.
- Yeo Gene W.
- Young Taylor
- Yu Tianxiong
- Yue Feng
- Zaleski Chris
- Zang Chongzhi
- Zeng Haoyang
- Zeng Weihua
- Zerbino Daniel R.
- Zhai Jie
- Zhan Lijun
- Zhan Ye
- Zhang Bo
- Zhang Jialing
- Zhang Jialing
- Zhang Jing
- Zhang Jing
- Zhang Kai
- Zhang Lijun
- Zhang Peng
- Zhang Qi
- Zhang Xiao-Ou
- Zhang Xiao-Ou
- Zhang Yanxiao
- Zhang Zhizhuo
- Zhao Yuan
- Zheng Ye
- Zhong Guoqing
- Zhou Xiao-Qiao
- Zhu Yun
- Zimmerman Jared
- Publication venue
- 'Springer Science and Business Media LLC'
- Publication date
- 01/07/2020
- Field of study
AbstractThe human and mouse genomes contain instructions that specify RNAs and proteins and govern the timing, magnitude, and cellular context of their production. To better delineate these elements, phase III of the Encyclopedia of DNA Elements (ENCODE) Project has expanded analysis of the cell and tissue repertoires of RNA transcription, chromatin structure and modification, DNA methylation, chromatin looping, and occupancy by transcription factors and RNA-binding proteins. Here we summarize these efforts, which have produced 5,992 new experimental datasets, including systematic determinations across mouse fetal development. All data are available through the ENCODE data portal (https://www.encodeproject.org), including phase II ENCODE1 and Roadmap Epigenomics2 data. We have developed a registry of 926,535 human and 339,815 mouse candidate cis-regulatory elements, covering 7.9 and 3.4% of their respective genomes, by integrating selected datatypes associated with gene regulation, and constructed a web-based server (SCREEN; http://screen.encodeproject.org) to provide flexible, user-defined access to this resource. Collectively, the ENCODE data and registry provide an expansive resource for the scientific community to build a better understanding of the organization and function of the human and mouse genomes.11Nsciescopu
Perspectives on ENCODE
- Author
- Abascal Federico
- Acosta Reyes
- Addleman Nicholas J.
- Adrian Jessika
- Afzal Veena
- Ai Rizi
- Aken Bronwen
- Akiyama Jennifer A.
- Amrhein Henry
- Anderson Stacie M.
- Andrews Gregory R.
- Antoshechkin Igor
- Ardlie Kristin G.
- Armstrong Joel
- Astley Matthew
- Banerjee Budhaditya
- Barkal Amira A.
- Barnes If H. A.
- Barozzi Iros
- Barrell Daniel
- Barson Gemma
- Bates Daniel
- Baymuradov Ulugbek K.
- Bazile Cassandra
- Beer Michael A.
- Beik Samantha
- Bender M. A.
- Bennett Ruth
- Bernstein Bradley E.
- Bernstein Bradley E.
- Berry Andrew
- Bhaskar Anand
- Biber Benjamin Van
- Bignell Alexandra
- Blue Steven M.
- Bodine David M.
- Boix Carles
- Boley Nathan
- Borrman Tyler
- Borsari Beatrice
- Bouvrette Louis Philip Benoit
- Boyle Alan P.
- Brandsmeier Laurel A.
- Breschi Alessandra
- Bresnick Emery H.
- Brooks Jason A.
- Buckley Michael
- Burge Christopher B.
- Byron Rachel
- Cahill Eileen
- Cai Lingling
- Cao Lulu
- Carty Mark
- Castanon Rosa G.
- Castillo Andres
- Chaib Hassan
- Chan Esther T.
- Chee Daniel R.
- Chee Sora
- Chen Hao
- Chen Huaming
- Chen Jia-Yu
- Chen Songjie
- Cherry J. Michael
- Cherry J. Michael
- Chhetri Surya B.
- Choudhary Jyoti S.
- Chrast Jacqueline
- Chung Dongjun
- Clarke Declan
- Cody Neal A. L.
- Coppola Candice J.
- Coursen Julie
- Dalton Stephen
- Danyko Cassidy
- Davidson Claire
- Davila-Velderrain Jose
- Davis Carrie A.
- Dekker Job
- Deran Alden
- DeSalvo Gilberto
- Despacio-Reyes Gloria
- Dewey Colin N.
- Dickel Diane E.
- Diegel Morgan
- Diekhans Mark
- Dileep Vishnu
- Ding Bo
- Djebali Sarah
- Dobin Alexander
- Dominguez Daniel
- Donaldson Sarah
- Drenkow Jorg
- Dreszer Timothy R.
- Drier Yotam
- Duff Michael O.
- Dunn Douglass
- D’Ippolito Anthony M.
- Eastman Catharine
- Ecker Joseph R.
- Edwards Matthew D.
- El-Ali Nicole
- Elhajjajy Shaimae I.
- Elkins Keri
- Emili Andrew
- Epstein Charles B.
- Evans Rachel C.
- Ezkurdia Iakes
- Fan Kaili
- Farnham Peggy J.
- Farrell Nina
- Feingold Elise A.
- Feingold Elise A.
- Ferreira Anne-Maud
- Fisher-Aylor Katherine
- Fitzgerald Stephen
- Flicek Paul
- Flicek Paul
- Foo Chuan Sheng
- Fortier Kevin
- Frankish Adam
- Frankish Adam
- Freese Peter
- Fu Shaliu
- Fu Xiang-Dong
- Fu Yu
- Fukuda-Yuzawa Yoko
- Fulciniti Mariateresa
- Funnell Alister P. W.
- Gabdank Idan
- Galeev Timur
- Gao Mingshi
- Garvin Tyler H.
- Gelboin-Burkhart Chelsea Anne
- Georgolopoulos Grigorios
- Gerstein Mark B.
- Gerstein Mark B.
- Giardine Belinda M.
- Gifford David K.
- Gilbert David M.
- Gilchrist Daniel A.
- Gilchrist Daniel A.
- Gillespie Shawn
- Gingeras Thomas R.
- Gingeras Thomas R.
- Giron Carlos Garcia
- Gong Peng
- Gonzalez Alvaro
- Gonzalez Jose M.
- Good Peter
- Goren Alon
- Gorkin David U.
- Graveley Brenton R.
- Graveley Brenton R.
- Gray Michael
- Greenblatt Jack F.
- Griffiths Ed
- Groudine Mark T.
- Grubert Fabian
- Gu Mengting
- Guigó Roderic
- Guo Hongbo
- Guo Yu
- Guo Yuchun
- Gursoy Gamze
- Gutierrez-Arcelus Maria
- Halow Jessica
- Hardison Ross C.
- Hardison Ross C.
- Hardy Matthew
- Hariharan Manoj
- Harmanci Arif
- Harrington Anne
- Harrow Jennifer L.
- Hashimoto Tatsunori B.
- Hasz Richard D.
- Hatan Meital
- Haugen Eric
- Hayes James E.
- He Peng
- He Yupeng
- Heidari Nastaran
- Hendrickson David
- Heuston Elisabeth F.
- Hilton Jason A.
- Hitz Benjamin C.
- Hitz Benjamin C.
- Hochman Abigail
- Holgren Cory
- Hou Lei
- Hou Shuyu
- Hsiao Yun-Hua E.
- Hsu Shanna
- Huang Hui
- Hubbard Tim J.
- Huey Jack
- Hughes Timothy R.
- Hunt Toby
- Ibarrientos Sean
- Issner Robbyn
- Iwata Mineo
- Izuogu Osagie
- Jaakkola Tommi
- Jameel Nader
- Jammal Omar Al
- Jansen Camden
- Jiang Lixia
- Jiang Peng
- Johnson Audra
- Johnson Rory
- Jungreis Irwin
- Kadaba Madhura
- Kasowski Maya
- Kasparian Mary
- Kato Momoe
- Kaul Rajinder
- Kawli Trupti
- Kay Michael
- Keen Judith C.
- Keles Sunduz
- Keller Cheryl A.
- Kelley David
- Kellis Manolis
- Kheradpour Pouya
- Kim Daniel Sunwook
- Kirilusha Anthony
- Klein Robert J.
- Knoechel Birgit
- Kuan Samantha
- Kulik Michael J.
- Kumar Sushant
- Kundaje Anshul
- Kutyavin Tanya
- Lagarde Julien
- Lajoie Bryan R.
- Lambert Nicole J.
- Lazar John
- Lee Ah Young
- Lee Donghoon
- Lee Elizabeth
- Lee Jin Wook
- Lee Kristen
- Leslie Christina S.
- Levy Shawn
- Li Bin
- Li Hairi
- Li Nan
- Li Shantao
- Li Xiangrui
- Li Yang I.
- Li Ying
- Li Yining
- Li Yue
- Lian Jin
- Libbrecht Maxwell W.
- Lin Shin
- Lin Yiing
- Liu Dianbo
- Liu Jason
- Liu Peng
- Liu Tingting
- Liu X. Shirley
- Liu Yan
- Liu Yaping
- Long Maria
- Lou Shaoke
- Loveland Jane
- Lu Aiping
- Lu Yuheng
- Lécuyer Eric
- Ma Lijia
- Mackiewicz Mark
- Mannion Brandon J.
- Mannstadt Michael
- Manthravadi Deepa
- Marinov Georgi K.
- Martin Fergal J.
- Mattei Eugenio
- McCue Kenneth
- McEown Megan
- McVicker Graham
- Meadows Sarah K.
- Meissner Alex
- Mendenhall Eric M.
- Mendenhall Eric M.
- Messer Christopher L.
- Meuleman Wouter
- Meyer Clifford
- Miller Steve
- Milton Matthew G.
- Mishra Tejaswini
- Moore Dianna E.
- Moore Helen M.
- Moore Jill E.
- Moore Jill E.
- Moore Samuel H.
- Moran Jennifer
- Mortazavi Ali
- Mudge Jonathan M.
- Munshi Nikhil
- Murad Rabi
- Myers Richard M.
- Myers Richard M.
- Nandakumar Vivek
- Nandi Preetha
- Narasimha Anil M.
- Narayanan Aditi K.
- Naughton Hannah
- Navarro Fabio C. P.
- Navas Patrick
- Nazarovs Jurijs
- Nelson Jemma
- Neph Shane
- Neri Fidencio Jun
- Nery Joseph R.
- Nesmith Amy R.
- Newberry J. Scott
- Newberry Kimberly M.
- Ngo Vu
- Nguyen Rosy
- Nguyen Thai B.
- Nguyen Tung
- Nishida Andrew
- Noble William S.
- Novak Catherine S.
- Novoa Eva Maria
- Nuñez Briana
- Olson Sara
- Onate Kathrina C.
- Otterman Ericka
- Ozadam Hakan
- O’Donnell Charles W.
- Pagan Michael
- Pagan Michael
- Palden Tsultrim
- Pan Xinghua
- Park Yongjin
- Partridge E. Christopher
- Paten Benedict
- Pauli-Behn Florencia
- Pazin Michael J.
- Pazin Michael J.
- Pei Baikang
- Pennacchio Len A.
- Perez Alexander R.
- Perry Emily H.
- Pervouchine Dmitri D.
- Phalke Nishigandha N.
- Pham Quan
- Phanstiel Doug H.
- Plajzer-Frick Ingrid
- Pratt Gabriel A.
- Pratt Henry E.
- Preissl Sebastian
- Pritchard Jonathan K.
- Pritykin Yuri
- Purcaro Michael J.
- Qin Qian
- Quinones-Valdez Giovanni
- Rabano Ines
- Radovani Ernest
- Raj Anil
- Rajagopal Nisha
- Ram Oren
- Ramirez Lucia
- Ramirez Ricardo N.
- Rausch Dylan
- Raychaudhuri Soumya
- Raymond Joseph
- Razavi Rozita
- Reddy Timothy E.
- Reimonn Thomas M.
- Ren Bing
- Ren Bing
- Reymond Alexandre
- Reynolds Alex
- Rhie Suhn K.
- Rinn John
- Rivera Miguel
- Rivera-Mulia Juan Carlos
- Roberts Brian
- Rodriguez Jose Manuel
- Rozowsky Joel
- Ryan Russell
- Rynes Eric
- Salins Denis N.
- Sandstrom Richard
- Sasaki Takayo
- Sathe Shashank
- Savic Daniel
- Scavelli Alexandra
- Scheiman Jonathan
- Schlaffner Christoph
- Schloss Jeffery A.
- Schmitges Frank W.
- See Lei Hoon
- Sethi Anurag
- Setty Manu
- Shafer Anthony
- Shan Shuo
- Sharon Eilon
- Shen Quan
- Shen Yin
- Sherwood Richard I.
- Shi Minyi
- Shin Sunyoung
- Shoresh Noam
- Siebenthall Kyle
- Sisu Cristina
- Slifer Teri
- Sloan Cricket A.
- Smith Anna
- Snetkova Valentina
- Snyder Michael P.
- Snyder Michael P.
- Spacek Damek V.
- Srinivasan Sharanya
- Srivas Rohith
- Stamatoyannopoulos George
- Stamatoyannopoulos John A.
- Stamatoyannopoulos John A.
- Stanton Rebecca
- Steffan Dave
- Stehling-Sun Sandra
- Strattan J. Seth
- Su Amanda
- Sundararaman Balaji
- Suner Marie-Marthe
- Syed Tahin
- Szynkarek Matt
- Tanaka Forrest Y.
- Tenen Danielle
- Teng Mingxiang
- Thomas Jeffrey A.
- Toffey Dave
- Tress Michael L.
- Trout Diane E.
- Trynka Gosia
- Tsuji Junko
- Upchurch Sean A.
- Ursu Oana
- Uszczynska-Ratajczak Barbara
- Uziel Mia C.
- Valencia Alfonso
- van der Velde Arjan G.
- Van Nostrand Eric L.
- Vaydylevich Yekaterina
- Vazquez Jesus
- Victorsen Alec
- Vielmetter Jost
- Vierstra Jeff
- Visel Axel
- Vlasova Anna
- Vockley Christopher M.
- Volpi Simona
- Vong Shinny
- Wang Hao
- Wang Mengchi
- Wang Qin
- Wang Ruth
- Wang Tao
- Wang Wei
- Wang Xiaofeng
- Wang Yanli
- Watson Nathaniel K.
- Wei Xintao
- Wei Zhijie
- Weisser Hendrik
- Weissman Sherman M.
- Welch Rene
- Welikson Robert E.
- Weng Zhiping
- Weng Zhiping
- Westra Harm-Jan
- Whitaker John W.
- White Collin
- White Kevin P.
- Wildberg Andre
- Williams Brian A.
- Wine David
- Witt Heather N.
- Wold Barbara
- Wolf Maxim
- Wright James
- Xiao Rui
- Xiao Xinshu
- Xu Jie
- Xu Jinrui
- Yan Koon-Kiu
- Yan Yongqi
- Yang Hongbo
- Yang Xinqiong
- Yang Yi-Wen
- Yardımcı Galip Gürkan
- Yee Brian A.
- Yeo Gene W.
- Young Taylor
- Yu Tianxiong
- Yue Feng
- Zaleski Chris
- Zang Chongzhi
- Zeng Haoyang
- Zeng Weihua
- Zerbino Daniel R.
- Zerbino Daniel R.
- Zhai Jie
- Zhan Lijun
- Zhan Ye
- Zhang Bo
- Zhang Jialing
- Zhang Jing
- Zhang Kai
- Zhang Lijun
- Zhang Peng
- Zhang Qi
- Zhang Xiao-Ou
- Zhang Yanxiao
- Zhang Zhizhuo
- Zhao Yuan
- Zheng Ye
- Zhong Guoqing
- Zhou Xiao-Qiao
- Zhu Yun
- Zimmerman Jared
- Publication venue
- 'Springer Science and Business Media LLC'
- Publication date
- 01/07/2020
- Field of study
The Encylopedia of DNA Elements (ENCODE) Project launched in 2003 with the long-term goal of developing a comprehensive map of functional elements in the human genome. These included genes, biochemical regions associated with gene regulation (for example, transcription factor binding sites, open chromatin, and histone marks) and transcript isoforms. The marks serve as sites for candidate cis-regulatory elements (cCREs) that may serve functional roles in regulating gene expression1. The project has been extended to model organisms, particularly the mouse. In the third phase of ENCODE, nearly a million and more than 300,000 cCRE annotations have been generated for human and mouse, respectively, and these have provided a valuable resource for the scientific community.11Nsciescopu
Observation of the rare Bs0oμ+μ− decay from the combined analysis of CMS and LHCb data
- Author
- Aaij Roel
- Abbaneo Duccio
- Abbiendi Giovanni
- Abbrescia Marcello
- Abdullin Salavat
- Abdulsalam Abdulla
- Acosta Darin
- Acosta John Gabriel
- Adair Antony
- Adam Wolfgang
- Adams Mark Raymond
- Adams Todd
- Adeva Bernardo
- Adiguzel Aytul
- Adinolfi Marco
- Adler Volker
- Adrover Cosme
- Adzic Petar
- Afanasiev Serguei
- Affolder Anthony
- Agapitos Antonis
- Agram Jean-Laurent
- Ahmad Ashfaq
- Ahmad Muhammad
- Ahuja Sudha
- Ajaltouni Ziad
- Akar Simon
- Akchurin Nural
- Akgun Bora
- Akin Ilina Vasileva
- Albajar Carmen
- Albayrak Elif Asli
- Albergo Sebastiano
- Albrecht Johannes
- Albrow Michael
- Alcaraz Maestre Juan
- Aldaya Martin Maria
- Alderweireldt Sara
- Aldá Júnior Walter Luiz
- Aleksandrov Aleksandar
- Alessio Federico
- Alexander James
- Alexander Michael
- Ali Suvayu
- Alimena Juliette
- Alkhazov Georgy
- Alvarez Cartelle Paula
- Alverson George
- Alves Jr. Antonio Augusto
- Alves Gilvan
- Amapane Nicola
- Amato Sandra
- Amerio Silvia
- Amhis Yasmine
- Amsler Claude
- An Liupan
- Anagnostou Georgios
- Anderlini Lucio
- Anderson Jacob
- Anderson Jonathan
- Andrea Jeremy
- Andreassen Rolf
- Andreev Vladimir
- Andreev Yuri
- Andreotti Mirco
- Andrews Jason
- Androsov Konstantin
- Antonelli Louis
- Antunovic Zeljko
- Apanasevich Leonard
- Apollinari Giorgio
- Appelt Eric
- Appleby Robert
- Apresyan Artur
- Apyan Aram
- Aquines Gutierrez Osvaldo
- Archilli Flavio
- Arcidiacono Roberta
- Arenton Michael Wayne
- Argiro Stefano
- Arneodo Michele
- Arora Sanjay
- Artamonov Alexander
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- Asavapibhop Burin
- Asawatangtrakuldee Chayanit
- Asin Ivan
- Askew Andrew
- Aslanides Elie
- Aslanoglou Xenofon
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- Ata Metin
- Attikis Alexandros
- Aubin Alexandre
- Auffray Etiennette
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- Autermann Christian Tobias
- Auzinger Georg
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- Voong David
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- Wagner-Kuhr Jeannine
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- Walker Matthew
- Wallace Charlotte
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- Wallny Rainer
- Walsh John
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- Waltenberger Wolfgang
- Wandernoth Sebastian
- Wang Dayong
- Wang Fuqiang
- Wang Jian
- Wang Jianchun
- Wang Quan
- Wang Ren-Jie
- Wang Zheng
- Ward David
- Wardle Nicholas
- Watson Nigel
- Wayand Stefan
- Wayne Mitchell
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- Weber Hendrik
- Weber Martin
- Weber Matthias
- Websdale David
- Weiler Thomas
- Weinberg Marc
- Welke Charles
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- Weng Yao
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- West Christopher
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- Whitehead Mark
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- Wilbur Scott
- Wilken Rachel
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- Wright Simon
- Wulsin Howard Wells
- Wulz Claudia-Elisabeth
- Wyllie Kenneth
- Wyslouch Bolek
- Wöhri Hermine Katharina
- Würthwein Frank
- Xiao Hong
- Xie Si
- Xie Wei
- Xie Yuehong
- Xing Zhou
- Xu Lingshan
- Xu Zhirui
- Xu Zijun
- Yagil Avraham
- Yalvac Metin
- Yang Fan
- Yang Mingming
- Yang Yong
- Yang Zhenwei
- Yazgan Efe
- Yelton John
- Yetkin Taylan
- Yi Kai
- Yilmaz Yetkin
- Yohay Rachel
- Yoo Hwi Dong
- Yoo Jaehyeok
- York Andrew
- Yu Intae
- Yu Shin-Shan
- Yuan Xuhao
- Yumiceva Francisco
- Yushchenko Oleg
- Zabel James
- Zabi Alexandre
- Zablocki Jakub
- Zaganidis Nicolas
- Zakaria Mohammed
- Zalewski Piotr
- Zanetti Anna
- Zanetti Marco
- Zangoli Maria
- Zarubin Anatoli
- Zavertyaev Mikhail
- Zeinali Maryam
- Zenoni Florian
- Zenz Seth Conrad
- Zeuner Wolfram Dietrich
- Zeyrek Mehmet
- Zhang Jinzhong
- Zhang Liming
- Zhang Wen Chao
- Zhang Yanxi
- Zhelezov Alexey
- Zhokhov Anatoly
- Zhokin Alexander
- Zhong Liang
- Zhu Ren-Yuan
- Zhukov Valery
- Zhukova Victoria
- Zotto Pierluigi
- Zou Wei
- Zsigmond Anna Julia
- Zucchetta Alberto
- Zumerle Gianni
- Zuranski Andrzej
- Zvada Marian
- Publication venue
- Publication date
- 01/01/2014
- Field of study
Evaluation of a quality improvement intervention to reduce anastomotic leak following right colectomy (EAGLE): pragmatic, batched stepped-wedge, cluster-randomized trial in 64 countries
- Author
- Aarts Frits
- Ababneh Hazim
- Abad-Motos Ane
- Abaidalla Ahmed
- Abbakar Malaz
- Abd El Aal Ahmed
- Abd-Errazik Mohammad Ahmad
- Abdalradiy Abdalrahmman G
- Abdelkhalek Mohamed
- Abdelkhalek Mostafa
- Abdellatif Ahmed
- Abdellatif Mohamed
- Abdelsaid Kirolas
- Abdou Khaled
- Abdulfatah Mustapha
- Abdullah Mohammad Amer
- Abdullahi Mustapha Miko Mohammed
- Abellán Antonio Melero
- Abeysinghe Nayana
- Abiyere Henry
- Achimas-Cadariu Patriciu Andrei
- Adakaya Sıla
- Adam Nicolas
- Adams Benita
- Adams Ferdinand
- Adegboye Kazeem
- Adeyeye Ademola
- Adra Lama
- Adu-Poku Patricia
- Afuwape Oludolapo
- Afzal Ameer
- Afzal Muhammad Farooq
- Agapov Mihail
- Agara Daniel
- Aggarwal Manisha
- Agger Erika
- Aghadi Ifeanyi Kene
- Ahmed Amjed Yassir
- Ahmed Haleemasahdia
- Ahmed Khalil
- Ahmed Manar
- Ahmed Masood
- Ahmed Safia
- Ahn Hong Min
- Aibe Raquel
- Aigner Felix
- Aissat Abdenour
- Aitbaeva Arai
- Akay Omer
- Akbar Ali
- Akbas Ahmet
- Akere Abidemi
- Akesen Selcan
- Akgun Erhan
- Akhtar Naseem
- Akın Emrah
- Akova Elif
- Aktas Serhat
- Akçay Özlem
- Al Masri Mahmoud
- Al-Alnsi Ahmed
- Al-Hutheifi Roqia'A
- Al-Jarrah Amar
- Al-Naggar Hamza
- Al-Shehari Mohammed
- Alamin Nadeen
- Alawi Raneen
- Alawlaqi Dina
- Alawneh Fade
- Alberola Maria José
- Albers Michael
- Alcolea Natalia González
- Aleem Muhammad
- Alegre Inês
- Alegre Javier Martinez
- Alexandre Flavia
- Alexandrescu Corina
- Alexnder Abelevich
- Alexopoulou Kalliopi
- Alfonso Beatriz Amorós
- Ali Ahmed
- Ali Che Saniati Che
- Ali Danish
- Ali Madeeha
- Ali Mahmoud Abdelwahab
- Ali Manhal Hashim
- Ali Noura Al
- Alikhanli Jhale
- Aliyeva Zumrud
- Aliyu Mohammed
- Aljawder Hasan
- Allen Kate
- Almahmeed Ebrahim
- Alonso Alfredo
- Alonso Javier Etreros
- Alsamneh Muneer
- Alsayadi Ramzi
- Altinel Yuksel
- Altintoprak Fatih
- Altomare Donato F
- Alvarenga Isabella
- Alvarez Laura Jimenez
- Alvarez-Bautista Francisco Emmanuel
- Alvarez-Díez Marcos
- Alves Brenda Chayanny
- Amadigwe Rita
- Amado Andreia
- Amado Fabíola
- Amador Cristina García
- Amanullah Nazli
- Amaral Hélida Aline Tomacheski
- Amaral Luis
- Amin-Tai Hizami
- Aminu Bashiru
- Amir Ahmad Suhaimi
- Ammar Ahmed Siddique
- Ammar Mona Ahmed
- Ammendola Michele
- Ammerata Giorgio
- Amorim Edgar
- Ancans Guntis
- Anderson Tom
- Andrade Diogo
- Andrejevic Predrag
- Andrés Beatriz Díaz San
- Anestiadou Elissavet
- Ang Chin Wee
- Angelo Franceschi
- Anokhin Evgeny
- Anoldo Pietro
- Antakia Ramez
- Anton Majd
- Antonelli Serena
- Antropoli Carmine
- Anula Rocio
- Anwar Jamal
- Anyadike Florence
- Apostolakidou Magda
- Apostolidi Eirini
- Aprea Giovanni
- Arabadzhiev Angel
- Arakawa Satoshi
- Arauz Jazmin
- Aravindan U
- Aremu Abdurrahman
- Aremu Isiaka
- Argawy Osama
- Arican Can
- Arida Zahed Abu
- Armellin Claudia
- Arnaoutoglou Eleni
- Arreguy-Borges Kanthya
- Artigot Mariano
- Arturi Alessandro
- Arulappan Nirupama
- Arya Shobhit
- Arynov Ardak
- Asaad Peter
- Asano Yukio
- Ascari Francesca
- Asgarov Mohsum
- Ashmawy Soad
- Aslam Muhammad Imran
- Assimakopoulou Elena
- Assis Ana
- Astilleta Romina
- Atanasov Boyko
- Atendido Tiffany
- Athanasakis Elias
- Atici Semra Demirli
- Avellaneda Nicholas
- Avellaneda Nicolas
- Avseren Goksu
- Awead Marwa
- Ayandipo Omobolaji
- Aybar Engin
- Aydin Funda
- Aydin Gaye
- Ayoub Kusay
- Aytac Erman
- Aytaç Erman
- Azevedo Jose
- Azevedo Patricia
- Azhar Najia
- Aziz Gowhar
- Azman Zairul Azwan Mohd
- Aşkar Ahmet
- Babatunde Olanrewaju
- Badawi Marwa
- Baek Jeong-Heum
- Baez Noelia Fernández
- Baeza-Murcia Melody
- Bagnardi Francesco
- Baharom Salahudin
- Baik Seung Hyuk
- Baimakhanov Abylai
- Bains Lovenish
- Baker Aleksandra
- Bakmaz Bernarda
- Bala Abubakar Muhammad
- Balaban Vladimir
- Balalis Dimitrios
- Balasubramaniam Dinesh
- Balathayalan Yathev
- Baldi Claudio
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- de Andrés-Asenjo Beatriz
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- en Siew Bei
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- Felix Michael Shalzim
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- Kashchenko Victor A
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- Korkolis Dimitrios
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- Zain Wan Zainira Wan
- Zainy Rhendra Hardy Mohamad
- Zakaria Andee Dzulkarnaen
- Zakaria Maheen
- Zakaria Zaidi
- Zamudio-Bautista Jorge Luis
- Zanc Loredana
- Zanoni Andrea
- Zanus Giacomo
- Zapparoli Alessandro
- Zappone Anna
- Zarzava Eirini
- Zatari Dirar
- Zawadzki Marek
- Zayakov Georgi
- Zaycev Andrey
- Zazo Aya
- Zazo Rama
- Zdravkovic Maja
- Zengin Abdullah Kağan
- Zeringa Georgia
- Zimmerman David D E
- Zuhdy Mohammad
- Zvirych Vitalii
- Zywicka Ewa
- Álvarez-Llano Laura
- Ângelo Miguel Duarte
- ÓSullivan Sara Nuñez
- Özçelik Mehmet Faik
- Ćoza Ivo
- Şanlı Ahmet Necati
- Publication venue
- Publication date
- 01/01/2023
- Field of study
Background
Anastomotic leak affects 8 per cent of patients after right colectomy with a 10-fold increased risk of postoperative death. The EAGLE study aimed to develop and test whether an international, standardized quality improvement intervention could reduce anastomotic leaks.
Methods
The internationally intended protocol, iteratively co-developed by a multistage Delphi process, comprised an online educational module introducing risk stratification, an intraoperative checklist, and harmonized surgical techniques. Clusters (hospital teams) were randomized to one of three arms with varied sequences of intervention/data collection by a derived stepped-wedge batch design (at least 18 hospital teams per batch). Patients were blinded to the study allocation. Low- and middle-income country enrolment was encouraged. The primary outcome (assessed by intention to treat) was anastomotic leak rate, and subgroup analyses by module completion (at least 80 per cent of surgeons, high engagement; less than 50 per cent, low engagement) were preplanned.
Results
A total 355 hospital teams registered, with 332 from 64 countries (39.2 per cent low and middle income) included in the final analysis. The online modules were completed by half of the surgeons (2143 of 4411). The primary analysis included 3039 of the 3268 patients recruited (206 patients had no anastomosis and 23 were lost to follow-up), with anastomotic leaks arising before and after the intervention in 10.1 and 9.6 per cent respectively (adjusted OR 0.87, 95 per cent c.i. 0.59 to 1.30; P = 0.498). The proportion of surgeons completing the educational modules was an influence: the leak rate decreased from 12.2 per cent (61 of 500) before intervention to 5.1 per cent (24 of 473) after intervention in high-engagement centres (adjusted OR 0.36, 0.20 to 0.64; P < 0.001), but this was not observed in low-engagement hospitals (8.3 per cent (59 of 714) and 13.8 per cent (61 of 443) respectively; adjusted OR 2.09, 1.31 to 3.31).
Conclusion
Completion of globally available digital training by engaged teams can alter anastomotic leak rates. Registration number: NCT04270721 (http://www.clinicaltrials.gov)
Observation of the rare <tex>B_{S}^{0}\rightarrow\mu^{+}\mu^{-}$</tex> decay from the combined analysis of CMS and LHCb data
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- Publication venue
- Publication date
- 01/01/2015
- Field of study
Κορώνη -- Μοσχάτον
- Author
- :
- Aaij R.
- Abbaneo D.
- Abbiendi G.
- Abbrescia M.
- Abdullin S.
- Abdulsalam A.
- Acosta D.
- Acosta J. G.
- Acosta M. Vazquez
- Adair A.
- Adam W.
- Adams M. R.
- Adams T.
- Adeva B.
- Adiguzel A.
- Adinolfi M.
- Adler V.
- Adrover C.
- Adzic P.
- Afanasiev S.
- Affolder A.
- Agapitos A.
- Agram J. -L.
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- Ahmad M.
- Ahmad W. Haj
- Ahuja S.
- Ajaltouni Z.
- Akar S.
- Akchurin N.
- Akgun B.
- Akiba K. Carvalho
- Akin I. V.
- Albajar C.
- Albayrak E. A.
- Albergo S.
- Albor V. Fernandez
- Albrecht J.
- Albrow M.
- Alderweireldt S.
- Aleksandrov A.
- Alessio F.
- Alexander J.
- Alexander M.
- Ali M. A. B. Md
- Ali S.
- Alimena J.
- Alkhazov G.
- Altarelli M. Pepe
- Alvarez J. D. Ruiz
- Alverson G.
- Alves Jr A. A.
- Alves G. A.
- Amapane N.
- Amato S.
- Amerio S.
- Amhis Y.
- Amsler C.
- An L.
- Anagnostou G.
- Anderlini L.
- Anderson J.
- Anderson J.
- Andrea J.
- Andreassen R.
- Andreev V.
- Andreev Yu.
- Andreotti M.
- Andrews J. E.
- Androsov K.
- Angioni G. L. Pinna
- Antonelli L.
- Antunes J. Rodrigues
- Antunovic Z.
- Apanasevich L.
- Apollinari G.
- Appelt E.
- Appleby R. B.
- Apresyan A.
- Apyan A.
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- Publication venue
- Publication date
- 26/01/2009
- Field of study
A joint measurement is presented of the branching fractions Bs0→μ+μ− and B0→μ+μ− in proton-proton collisions at the LHC by the CMS and LHCb experiments. The data samples were collected in 2011 at a centre-of-mass energy of 7 TeV, and in 2012 at 8 TeV. The combined analysis produces the first observation of the Bs0→μ+μ− decay, with a statistical significance exceeding six standard deviations, and the best measurement of its branching fraction so far, and three standard deviation evidence for the B0→μ+μ− decay. The measurements are statistically compatible with SM predictions and impose stringent constraints on several theories beyond the SM
The impact of surgical delay on resectability of colorectal cancer: An international prospective cohort study
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- Çolak E
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- Ćoza I
- Ławnicka A
- Žatecký J
- Publication venue
- 'Wiley'
- Publication date
- 01/01/2022
- Field of study
AimThe SARS-CoV-2 pandemic has provided a unique opportunity to explore the impact of surgical delays on cancer resectability. This study aimed to compare resectability for colorectal cancer patients undergoing delayed versus non-delayed surgery.MethodsThis was an international prospective cohort study of consecutive colorectal cancer patients with a decision for curative surgery (January-April 2020). Surgical delay was defined as an operation taking place more than 4 weeks after treatment decision, in a patient who did not receive neoadjuvant therapy. A subgroup analysis explored the effects of delay in elective patients only. The impact of longer delays was explored in a sensitivity analysis. The primary outcome was complete resection, defined as curative resection with an R0 margin.ResultsOverall, 5453 patients from 304 hospitals in 47 countries were included, of whom 6.6% (358/5453) did not receive their planned operation. Of the 4304 operated patients without neoadjuvant therapy, 40.5% (1744/4304) were delayed beyond 4 weeks. Delayed patients were more likely to be older, men, more comorbid, have higher body mass index and have rectal cancer and early stage disease. Delayed patients had higher unadjusted rates of complete resection (93.7% vs. 91.9%, P = 0.032) and lower rates of emergency surgery (4.5% vs. 22.5%, P ConclusionOne in 15 colorectal cancer patients did not receive their planned operation during the first wave of COVID-19. Surgical delay did not appear to compromise resectability, raising the hypothesis that any reduction in long-term survival attributable to delays is likely to be due to micro-metastatic disease
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- Author
- Abdelrazik M
- Abedalthagafi M
- Abel L
- Abel L
- Abellan J
- Abernathy C
- Abraheem A
- Acklery A
- Acosta-Isaac R
- Adam R
- Adams C
- Adams K
- Adams N
- Adanini O
- Afolabi D
- Agasou A
- Agravante K
- Agravante K
- Agrawal S
- Aguado JM
- Aguilar C
- Aguilar PM
- Aguilera-Albesa S
- Ahmad N
- Ahmadhaider N
- Ahmed A
- Ahmed C
- Aitkin E
- Akeroyd L
- Akhtar MN
- Akinkugbe O
- Al-Moasseb H
- Alasdair F
- Alba J
- Albu S
- Alcalá-Gallardo KAM
- Alcoba-Florez J
- Aldridge J
- Alex B
- Alexander P
- Alfonso J
- Algarin-Lara HR
- Ali A
- Ali HH
- Ali IAM
- Ali S
- Allan A
- Allan E
- Allan J
- Alldis Z
- Allen L
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- Almadana V
- Almaden-Boyle C
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- Baldión-Elorza AM
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- Cagova L
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- Candalija AC
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- Cardwell A
- Carioca AAF
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- Carpintero MS
- Carracedo A
- Carracedo A
- Carratto TMT
- Carrera LG
- Carrillo-Avila JA
- Carson G
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- Castaño CF
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- Cañadas Y
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- Chávez MEQ
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- Cienfuegos-Jimenez O
- Cinquina Z
- Clamp S
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- Cordero-Lorenzana ML
- Corella D
- Corin C
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- Corrales A
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- Corton M
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- Coton Z
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- de Juan C
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- Ye C
- Young M
- Yun N
- Yáñez Z
- Zak A
- Zaki A
- Zambon M
- Zamikula J
- Zapatamartinez M
- Zapatero-Gaviria A
- Zarate R
- Zazo S
- Zborowski AC
- Zechner M
- Zechner M
- Zhao X
- Zheng C
- Zitter L
- Zongo O
- Zorloni C
- Álvarez BG
- Álvarez-Benítez Y
- Álvarez-Navia F
- Íñiguez M
- Publication venue
- Springer Nature
- Publication date
- 17/05/2023
- Field of study
Data availability: Downloadable summary data are available through the GenOMICC data site (https://genomicc.org/data). Summary statistics are available, but without the 23andMe summary statistics, except for the 10,000 most significant hits, for which full summary statistics are available. The full GWAS summary statistics for the 23andMe discovery dataset will be made available through 23andMe to qualified researchers under an agreement with 23andMe that protects the privacy of the 23andMe participants. For further information and to apply for access to the data, see the 23andMe website (https://research.23andMe.com/dataset-access/). All individual-level genotype and whole-genome sequencing data (for both academic and commercial uses) can be accessed through the UKRI/HDR UK Outbreak Data Analysis Platform (https://odap.ac.uk). A restricted dataset for a subset of GenOMICC participants is also available through the Genomics England data service. Monocyte RNA-seq data are available under the title ‘Monocyte gene expression data’ within the Oxford University Research Archives (https://doi.org/10.5287/ora-ko7q2nq66). Sequencing data will be made freely available to organizations and researchers to conduct research in accordance with the UK Policy Framework for Health and Social Care Research through a data access agreement. Sequencing data have been deposited at the European Genome–Phenome Archive (EGA), which is hosted by the EBI and the CRG, under accession number EGAS00001007111.Extended data figures and tables are available online at https://www.nature.com/articles/s41586-023-06034-3#Sec21 .Supplementary information is available online at https://www.nature.com/articles/s41586-023-06034-3#Sec22 .Code availability:
Code to calculate the imputation of P values on the basis of SNPs in linkage disequilibrium is available at GitHub (https://github.com/baillielab/GenOMICC_GWAS).Acknowledgements: We thank the members of the Banco Nacional de ADN and the GRA@CE cohort group; and the research participants and employees of 23andMe for making this work possible. A full list of contributors who have provided data that were collated in the HGI project, including previous iterations, is available online (https://www.covid19hg.org/acknowledgements).Change history: 11 July 2023: A Correction to this paper has been published at: https://doi.org/10.1038/s41586-023-06383-z. -- In the version of this article initially published, the name of Ana Margarita Baldión-Elorza, of the SCOURGE Consortium, appeared incorrectly (as Ana María Baldion) and has now been amended in the HTML and PDF versions of the article.Copyright © The Author(s) 2023, Critical illness in COVID-19 is an extreme and clinically homogeneous disease phenotype that we have previously shown1 to be highly efficient for discovery of genetic associations2. Despite the advanced stage of illness at presentation, we have shown that host genetics in patients who are critically ill with COVID-19 can identify immunomodulatory therapies with strong beneficial effects in this group3. Here we analyse 24,202 cases of COVID-19 with critical illness comprising a combination of microarray genotype and whole-genome sequencing data from cases of critical illness in the international GenOMICC (11,440 cases) study, combined with other studies recruiting hospitalized patients with a strong focus on severe and critical disease: ISARIC4C (676 cases) and the SCOURGE consortium (5,934 cases). To put these results in the context of existing work, we conduct a meta-analysis of the new GenOMICC genome-wide association study (GWAS) results with previously published data. We find 49 genome-wide significant associations, of which 16 have not been reported previously. To investigate the therapeutic implications of these findings, we infer the structural consequences of protein-coding variants, and combine our GWAS results with gene expression data using a monocyte transcriptome-wide association study (TWAS) model, as well as gene and protein expression using Mendelian randomization. We identify potentially druggable targets in multiple systems, including inflammatory signalling (JAK1), monocyte–macrophage activation and endothelial permeability (PDE4A), immunometabolism (SLC2A5 and AK5), and host factors required for viral entry and replication (TMPRSS2 and RAB2A).GenOMICC was funded by Sepsis Research (the Fiona Elizabeth Agnew Trust), the Intensive Care Society, a Wellcome Trust Senior Research Fellowship (to J.K.B., 223164/Z/21/Z), the Department of Health and Social Care (DHSC), Illumina, LifeArc, the Medical Research Council, UKRI, a BBSRC Institute Program Support Grant to the Roslin Institute (BBS/E/D/20002172, BBS/E/D/10002070 and BBS/E/D/30002275) and UKRI grants MC_PC_20004, MC_PC_19025, MC_PC_1905 and MRNO2995X/1. A.D.B. acknowledges funding from the Wellcome PhD training fellowship for clinicians (204979/Z/16/Z), the Edinburgh Clinical Academic Track (ECAT) programme. This research is supported in part by the Data and Connectivity National Core Study, led by Health Data Research UK in partnership with the Office for National Statistics and funded by UK Research and Innovation (grant MC_PC_20029). Laboratory work was funded by a Wellcome Intermediate Clinical Fellowship to B.F. (201488/Z/16/Z). We acknowledge the staff at NHS Digital, Public Health England and the Intensive Care National Audit and Research Centre who provided clinical data on the participants; and the National Institute for Healthcare Research Clinical Research Network (NIHR CRN) and the Chief Scientist’s Office (Scotland), who facilitate recruitment into research studies in NHS hospitals, and to the global ISARIC and InFACT consortia. GenOMICC genotype controls were obtained using UK Biobank Resource under project 788 funded by Roslin Institute Strategic Programme Grants from the BBSRC (BBS/E/D/10002070 and BBS/E/D/30002275) and Health Data Research UK (HDR-9004 and HDR-9003). UK Biobank data were used in the GSMR analyses presented here under project 66982. The UK Biobank was established by the Wellcome Trust medical charity, Medical Research Council, Department of Health, Scottish Government and the Northwest Regional Development Agency. It has also had funding from the Welsh Assembly Government, British Heart Foundation and Diabetes UK. The work of L.K. was supported by an RCUK Innovation Fellowship from the National Productivity Investment Fund (MR/R026408/1). J.Y. is supported by the Westlake Education Foundation. SCOURGE is funded by the Instituto de Salud Carlos III (COV20_00622 to A.C., PI20/00876 to C.F.), European Union (ERDF) ‘A way of making Europe’, Fundación Amancio Ortega, Banco de Santander (to A.C.), Cabildo Insular de Tenerife (CGIEU0000219140 ‘Apuestas científicas del ITER para colaborar en la lucha contra la COVID-19’ to C.F.) and Fundación Canaria Instituto de Investigación Sanitaria de Canarias (PIFIISC20/57 to C.F.). We also acknowledge the contribution of the Centro National de Genotipado (CEGEN) and Centro de Supercomputación de Galicia (CESGA) for funding this project by providing supercomputing infrastructures. A.D.L. is a recipient of fellowships from the National Council for Scientific and Technological Development (CNPq)-Brazil (309173/2019-1 and 201527/2020-0)