2 research outputs found
CAGI, the critical assessment of genome interpretation, establishes progress and prospects for computational genetic variant interpretation methods
- Author
- Adamson Scott I.
- Adato Orit
- Adebali OgĂĽn
- Adhikari Aashish
- Adzhubey Ivan
- Ahituv Nadav
- Alontaga Aileen Y.
- Altman Russ B.
- Andreoletti Gaia
- Arkin Adam P.
- Aspromonte Maria C.
- Avsec Ziga
- Azaria Johnathan R.
- Babbi Giulia
- Bachman Benjamin
- Bakolitsa Constantina
- Ball Mad P.
- Barsky Daniel
- Batzoglou Serafim
- Beer Michael A.
- Bellazzi Riccardo
- Bellini Mariagrazia
- Benedicenti Francesco
- Bergquist Timothy R.
- Bernard Brady M.
- Berry Michael
- Bettella Elisa
- Bhat Rajendra R.
- Bhattacharya Rohit
- Bigoni Stefania
- Bobe Jason R.
- Bonache Sandra
- Bonvini Paolo
- Bovo Samuele
- Bowdin Sarah
- Boyle Alan P.
- Breese Marcus R.
- Brenner Steven E.
- Brodie Aharon
- Bromberg Yana
- Buckley Bethany A.
- Burke Wylie
- Butte Atul J.
- Cai Binghuang
- Campagna Joan
- Cao Chen
- Cao Yue
- Capriotti Emidio
- Carmel Liran
- Carr Lawrence R.
- Carraro Marco
- Carter Hannah
- Casadio Rita
- Cesca Federica
- Chandonia John Marc
- Chang Billy
- Chang Ray
- Chellapan Ajithavalli
- Chen Flavia
- Chen Haoran
- Chen Jingqi
- Chen Ken
- Chen Rui
- Chen Yun Ching
- Chhibber Aparna
- Chiaraluce Roberta
- Chong Ka Chun
- Chu Hoyin
- Church George M.
- Clark Wyatt T.
- Cline Melissa S.
- Cohen Noa E.
- Cong Qian
- Consalvi Valerio
- Cooper David N.
- Corbi-Verge Carles
- Cote Atina G.
- Cutting Garry R.
- Cygan Kamil J.
- Dabbiru Navya
- Dahary Dvir
- Daneshjou Roxana
- De Baets Greet
- De la Cruz Xavier
- Di Lena Pietro
- Diekhans Mark
- Dimster-Denk Dago F.
- Dong Shengcheng
- Douville Christopher
- Dunbrack Roland L.
- DĂez Orland
- Edwards Matthew D.
- Elefanti Lisa
- Elnitski Laura
- Eraslan Gökcen
- Fairbrother William G.
- Fan Jean
- Fariselli Piero
- Favorov Alexander V.
- Fenesh Tzila
- Fenton Aron W.
- Fernández Alejandro
- Fishilevich Simon
- Folkman Lukas
- Ford Colby T.
- Forman Julia R.
- Fornasari Maria S.
- Fowler Douglas M.
- Franke Andre
- Frankish Adam
- Fredericks Alger M.
- Friedberg Iddo
- Fullerton Stephanie M.
- Furutsuki Mabel
- Gagneur Julien
- Garg Aditi
- Getz Gad A.
- Gianni Stefano
- Gifford David K.
- Giollo Manuel
- Glidden David T.
- Gonzaludo Nina
- Gotea Valer
- Gough Julian
- Graveley Brenton R.
- Gray Joe W.
- Greenblatt Marc S.
- Grishin Nick V.
- Grubb Soren
- Guerrero Rafael F.
- Guo Yuchun
- Guthrie Violeta Beleva
- GutiĂ©rrez-EnrĂquez Sara
- Göke Jonathan
- Han James J.
- Harris-Wai Julie
- Harrow Jennifer
- Hart Reece K.
- Hasenahuer Marcia
- Hawkins-Hooker Alex
- Hernandez Ryan
- Holtzer Tamar
- Hoskins Roger A.
- Hosur Raghavendra
- Hu Inchi
- Hu Zhiqiang
- Huang Cheng Lai V.
- Hubbard Tim J.P.
- Huff Chad D.
- Hunter Jesse M.
- Huwe Peter J.
- Imanishi Tadashi
- Inoue Fumitaka
- Ioannidis Nilah M.
- Jacobsen Julius O.B.
- Jain Shantanu
- Jeong Chan Seok
- Jiang Yuxiang
- Jones David T.
- Jordan Daniel M.
- Joseph Thomas
- Juven-Gershon Tamar
- Kahn Scott
- Kane John P.
- Kann Maricel G.
- Karchin Rachel
- Karimi Mostafa
- Kasak Laura
- Katsanis Nicholas
- Katsonis Panagiotis
- Keles Sunduz
- Kellis Manolis
- Kenlay Henry
- Kiga Nikki
- Kim Dewey
- Kim Dongsup
- Kim Philip M.
- Kim Serra
- Kinch Lisa N.
- Kircher Martin
- Kirsch Jack F.
- Klein Teri E.
- Kleyman Michael
- Koenig Barbara A.
- Kollipara Naveen K.
- Kotte Sujatha
- Kousi Maria
- Kreimer Anat
- Krämer Andreas
- Kulakovskiy Ivan V.
- Kundaje Anshul
- Kundu Kunal
- Kwok Pui Yan
- Lai Carmen
- Lam Hugo Y.K.
- Lancet Doron
- Lathrop Richard H.
- LeBowitz Jonathan H.
- Lee Gyu Rie
- Lee Insuk
- Leonardi Emanuela
- Li Biao
- Li Mulin Jun
- Li Yue
- Lichtarge Olivier
- Limongelli Ivan
- Lin Chiao Feng
- Liu Xiaoming
- Lovisa Federica
- Lu Yutong
- Lua Rhonald C.
- Ly Melissa
- Löscher Britt Sabina
- Mak Angel C.Y.
- Mak Angel C.Y.
- Makeev Vsevolod J.
- Malloy Mary J.
- Mammi Isabella
- Mantuano Elide
- Margolin Gennady
- Marino-Buslje Cristina
- Marshall Christian
- Martelli Pier Luigi
- Martinez Selena
- Masica David
- Matreyek Kenneth A.
- McCombie W. Richard
- McInnes Gregory
- Menin Chiara
- Meyn M. Stephen
- Mezlini Aziz M.
- Milani Donatella
- Miller Maximilian
- Minervini Giovanni
- Minicozzi Velia
- Mishne Gilad
- Mohan Rahul
- Montalban Gemma
- Monzon Alexander M.
- Mooney Sean D.
- Morgan Alexander A.
- Moronfoye Oluwaseyi
- Mort Matthew
- Moult John
- Mount Stephen M.
- Mucaki Eliseos J.
- Mudge Jonathan M.
- Mueller Nikola S.
- Mungall Christopher J.
- Murakami Katsuhiko
- Murgia Alessandra
- Nadeau Kari C.Y.
- Nagai Yoko
- Naito Tatsuhiko
- Neil Christopher
- Neuhausen Susan L.
- Neumann Andrew J.
- Ng Pauline C.
- Nguyen Thi Yen Duong
- Nicora Giovanna
- Niknafs Noushin
- Niroula Abhishek
- Nodzak Conor
- Novak Leonore
- Nussbaum Robert L.
- Odell Eric
- Ofran Yanay
- Olatubosun Ayodeji
- Ootes Lars
- Ozturk Kivilcim
- O’Connor Robert
- O’Donnell-Luria Anne
- Padilla NatĂ lia
- Pagel Kymberleigh A.
- Paik Jodi
- Pal Debnath
- Pal Lipika R.
- Pandey Gaurav
- Parisi Gustavo
- Pasquo Alessandra
- Pastore Annalisa
- Patra Ayoti
- Pejaver Vikas
- Peng Jian
- Penzar Dmitry D.
- Peron Angela
- Peters-Petrulewicz Robin C.
- Petrosino Maria
- Pirooznia Mehdi
- Polli Roberta
- Potash James B.
- Puglisi Rita
- Radivojac Predrag
- Rana Sadhna
- Rao Aditya
- Rao Aliz R.
- Refaat Marwan M.
- Reid John
- Repo Susanna
- Rhine Christy L.
- Riera Casandra
- Rine Jasper D.
- Ritchie Graham R.S.
- Rizzo Ettore
- Rogan Peter K.
- Roth Frederick P.
- Rousseau Frederic
- Sabeti Pardis C.
- Saipradeep V. G.
- Sanford Jeremy R.
- Sartori Stefano
- Savojardo Castrense
- Scaini Maria Chiara
- Schmitt Nicole
- Schubach Max
- Schwarz Jana M.
- Schymkowitz Joost
- Searls David B.
- Sengupta Sohini
- Seok Chaok
- Shah Sohela
- Shatsky Maxim
- Shen Yang
- Shendure Jay
- Sheridan Molly B.
- Shi Fang Yuan
- Shi Xinghua
- Shigaki Dustin
- Shigeta Ron
- Shin Sunyoung
- Shon John
- Sinnott-Armstrong Nicholas A.
- Sivadasan Naveen
- Snyder Michael
- Sokolov Artem
- Spurdle Amanda B.
- Srinivasan Rajgopal
- Stackpole Mary
- Stamboulian Moses H.
- Stanke Mario
- Stanzial Franco
- Starita Lea M.
- Stavropoulos Dimitri J.
- Strokach Alexey V.
- Stuart Joshua M.
- Su Andrew
- Sun Rui
- Sun Song
- Sun Yuanfei
- Sundaram Laksshman
- Sunderam Uma
- Sunyaev Shamil
- Tang Paul L.F.
- Tavtigian Sean V.
- Teerakulkittipong Nuttinee
- Tewhey Ryan
- Thusberg Janita
- Tian Kevin
- Tokheim Collin
- Toldo Irene
- Topper Scott
- Tosatto Silvio C.E.
- Toto Angelo
- Tran Elizabeth
- Turina Paola
- Turner Tychele N.
- Turolla Licia
- Udani Rupa
- Unger Ron
- Uppal Aneeta
- van den Akker Jeroen
- Van Durme Joost
- Veltman Joris
- Veneziano Liana
- Verby Marta W.
- Vihinen Mauno
- Viswanath Vivek
- Vorontsov Ilya E.
- Voskanian Alin
- Väliaho Jouni
- Wahl Mary E.
- Wainberg Michael
- Walton Nephi A.
- Wang Maggie H.
- Wang Meng
- Wang Robert
- Wang Yanran
- Wang Yaqiong
- Wei Qiong
- Wei Zhipeng
- Weile Jochen
- Welch Rene
- Wilson Stephen J.
- Wojciak Julianne
- Wu Chunlei
- Wu William Ka Kei
- Xia Xiaoxuan
- Xu Qifang
- Yan Zhongxia
- Yang Yang
- Yang Yuedong
- Yao Zhaomin
- Yarborough Mark
- Yates Christopher M.
- Yee Stephen F.
- Yeleswarapu Sri Jyothsna
- Yeo Hui Ting Grace
- Yin Yizhou
- Yosef Nir
- Young Erin L.
- Yu Changhua
- Yu Chen Hsin
- Yu Guoying K.
- Yu Yao
- Zandi Peter P.
- Zaucha Jan
- Zee Benny C.
- Zeng Haoyang
- Zhang Jing
- Zhao Huying
- Zhou Alicia Y.
- Zhou Fengfeng
- Zhou Yaoqi
- Zimmer Anjali D.
- Ziv Elad
- Zook Justin M.
- Zuhl Maya
- Çelik Muhammed H.
- Ă–zkan Selen
- Publication venue
- BioMed Central
- Publication date
- 01/02/2024
- Field of study
Background: The Critical Assessment of Genome Interpretation (CAGI) aims to advance the state-of-the-art for computational prediction of genetic variant impact, particularly where relevant to disease. The five complete editions of the CAGI community experiment comprised 50 challenges, in which participants made blind predictions of phenotypes from genetic data, and these were evaluated by independent assessors. Results: Performance was particularly strong for clinical pathogenic variants, including some difficult-to-diagnose cases, and extends to interpretation of cancer-related variants. Missense variant interpretation methods were able to estimate biochemical effects with increasing accuracy. Assessment of methods for regulatory variants and complex trait disease risk was less definitive and indicates performance potentially suitable for auxiliary use in the clinic. Conclusions: Results show that while current methods are imperfect, they have major utility for research and clinical applications. Emerging methods and increasingly large, robust datasets for training and assessment promise further progress ahead
Whole Genome Sequencing Identifies CRISPLD2 as a Lung Function Gene in Children With Asthma
- Author
- Aakrosh Ratan
- Abecasis
- Adam Szpiro
- Adolfo Correa
- Adrienne Stilp
- Afshin Parsa
- Albert M. Levin
- Alex Reiner
- Allison Ashley-Koch
- Alvaro Alonso
- Alyna Khan
- Amber Beitelshees
- Amol Shetty
- Andrew Johnson
- Angel C.Y. Mak
- Ani Manichaikul
- Aniket Shetty
- Avram Walts
- Barbara Konkle
- Barnes
- Barry Make
- Becker
- Ben Heavner
- Benjamin A. Raby
- Bertha Hidalgo
- Beverly Snively
- Bisgaard
- Bisgaard
- Bo L. Chawes
- Bo-Juen Chen
- Bonnelykke
- Braxton Mitchell
- Brehm
- Brian Custer
- Brian Silver
- Bruce Gelb
- Bruce Psaty
- Bruce Weir
- Bønnelykke
- C. Charles Gu
- Campbell
- Cara Carty
- Carla Wilson
- Carole Sztalryd
- Carolina Roselli
- Carolyn Crandall
- Carr
- Cashell Jaquish
- Cathy Laurie
- Cecelia Laurie
- Celeste Eng
- Chao (Agnes) Hsiung
- Charles Eaton
- Charles Farber
- Charles Kooperberg
- Chii Min Hwu
- Chris Gignoux
- Christine Albert
- Christine Seidman
- Christoph Lange
- Christoph Lange
- Christopher Scheller
- Christy Chang
- Coleen Damcott
- Colleen Davis
- Craig Hersh
- Craig Johnson
- Cristen Willer
- D.C. Rao
- Da-Wei Gong
- Dan Arking
- Dan Levy
- Dan Roden
- Dandi Qiao
- Dandi Qiao
- Daniel Chasman
- Daniel E. Weeks
- Daniel Harris
- Daniel Taliun
- David Glahn
- David Herrington
- David Levine
- David Schwartz
- David Tirschwell
- Dawn DeMeo
- Dawood Darbar
- Deborah A. Meyers
- Deborah Applebaum-Bowden
- Deborah Nickerson
- Deepti Jain
- Degui Zhi
- Dhananjay Vaidya
- Diane Becker
- Dimitrios Avramopoulos
- Dmitry Prokopenko
- Donglei Hu
- Donna K. Arnett
- Edna Acosta-PĂ©rez
- Edwin Silverman
- Eimear Kenny
- Elaine Cornell
- Elizabeth Regan
- Elizabeth Streeten
- Ellen Schmidt
- Elliott Hong
- Emelia Benjamin
- Emily Barron-Casella
- Emily Wan
- Eric Boerwinkle
- Erick Forno
- Escamilla
- Esteban Burchard
- Esteban G. Burchard
- Ethan Lange
- Fanta
- Fei Fei Wang
- Ferdouse Begum
- Forno
- Frank Sciurba
- Galanter
- George Papanicolaou
- Gibson
- Girish Nadkarni
- Glorisa Canino
- Goncalo Abecasis
- Greg Kinney
- Haley Huston
- Hans Bisgaard
- Hao Mei
- Harald Goring
- Heather Ochs-Balcom
- Hemant Tiwari
- Himes
- Himes
- Himes
- Honghuang Lin
- Hongsheng Gui
- Horvath
- Hua Tang
- Huichun Xu
- Hunninghake
- Hyun Min Kang
- Ingo Ruczinski
- Ingrid Borecki
- Ivana Yang
- Jai Broome
- James Casella
- James Crapo
- James Hixson
- James Luo
- James Pankow
- James Perry
- James Wilson
- Jeff Haessler
- Jeff O'Connell
- Jeffrey Curtis
- Jennifer Brody
- Jennifer Smith
- Jerome Rotter
- Jessica A. Lasky-Su
- Jessica Su-Lasky
- Jiang He
- Jill Johnsen
- JoAnn Manson
- Joanne Curran
- Jody Sylvia
- John Barnard
- John Blangero
- John Hokanson
- Jonathan Cardwell
- Jonathan Seidman
- Jonathon LeFaive
- Jones
- Josh Smith
- Joshua Bis
- Joshua Lewis
- Josyf C. Mychaleckyj
- Juan C. CeledĂłn
- Juan Manuel Peralta
- Julia Powers Becker
- Julian Hecker
- Julie Mikulla
- Karen Bunting
- Karen Schwander
- Kari North
- Karin Hoth
- Karol Watson
- Kathleen Barnes
- Kathleen C. Barnes
- Kathleen Ryan
- Kathryn Lunetta
- Kaur
- Kayleen Williams
- Ken Rice
- Keng Han Lin
- Kent Taylor
- Kevin Sandow
- Kimberly Jones
- Klaus Bønnelykke
- Kramer Holly
- L. Adrienne Cupples
- L. Keoki Williams
- L. Keoki Williams
- Laird
- Lan
- Lange
- Larry Bielak
- Laura Almasy
- Laura Kaufman
- Laura Raffield
- Laura Rasmussen-Torvik
- Lauren Margolin
- Lawrence S. Phillips
- Leanna Farnam
- Lee-Ming Chuang
- Lesley Tinker
- Leslie Emery
- Leslie Lange
- Lewis Becker
- Lisa Martin
- Lisa Yanek
- Loehlein Fier
- Lu-Chen Weng
- Lucinda Fulton
- Lydiana Avila
- Lynette Ekunwe
- M. Benjamin Shoemaker
- Manuel E. Soto-Quiros
- Mao Fu
- Marco Perez
- Marcos Bezerra
- Margaret Parker
- Margaret Taub
- Margery Gass
- Marguerite Ryan Irvin
- Marilyn Telen
- Mariza de Andrade
- Mark Chaffin
- Mark Gladwin
- Maryam Zekavat
- Masuno
- Matthew Flickinger
- May E. Montasser
- Meher Preethi Boorgula
- Mengna Huang
- Merry-Lynn McDonald
- Meryl LeBoff
- Michael DeBaun
- Michael H. Cho
- Michael H. Cho
- Michael Hall
- Michael Kessler
- Michael Mahaney
- Michael Preuss
- Michael Tsai
- Michael Zody
- Michelle Daya
- Michelle Daya
- Michelle M. Cloutier
- Min A. Jhun
- Mina Chung
- Misior
- Moffatt
- Mollie Minear
- Myriam Fornage
- Nadeau
- Namiko Abe
- Nancy Min
- Nicholas Rafaels
- Nicholas Smith
- Nicholette (Nichole) Palmer Allred
- Nicola Hawley
- Nishimura
- Nona Sotoodehnia
- Nora Franceschini
- Norann Zaghloul
- Oyewumi
- Pamela Russell
- Pankaj Qasba
- Patricia Peyser
- Patrick Ellinor
- Patrick McArdle
- Paul Auer
- Pearce
- Peter Anderson
- Peter Durda
- Peter VandeHaar
- Phuwanat Sakornsakolpat
- Pradeep Natarajan
- Pramod Anugu
- Price
- Priyadarshini Kachroo
- Priyadarshini Kachroo
- Qing Duan
- Quenna Wong
- R. Graham Barr
- Rabinowitz
- Rachel S. Kelly
- Rakhi Naik
- Ranjan Deka
- Rasika Mathias
- Ravi Duggirala
- Rebecca Beer
- Rebecca Jackson
- Rich Johnston
- Richard Casaburi
- Robert Kaplan
- Robert Reed
- Robert Wallace
- Romero-Espinoza
- Ron Do
- Rongze Yang
- Russell Bowler
- Russell Tracy
- Ruth Loos
- Ryan Hernandez
- Ryan L. Minster
- Sam Phillips
- Sameer Chavan
- Santus
- Sara Penchev
- Sarah Ruuska
- Sayantan Das
- Schroder
- Scott Devine
- Scott T. Weiss
- Scott Vrieze
- Scott Weiss
- Sean David
- Sean McFarland
- Sebastian Zoellner
- Sekar Kathiresan
- Sergei Nekhai
- Seth Ament
- Seung Hoan Choi
- Seunggeun Shawn Lee
- Shabnam Salimi
- Shannon Kelly
- Sharon Kardia
- Simeon Taylor
- Simin Liu
- Smith
- Snow Xueyan Zhao
- Solomon Musani
- Soren Germer
- Stacey Gabriel
- Stanford Mwasongwe
- Stella Aslibekyan
- Stephanie Gogarten
- Stephanie Krauter
- Stephanie M. Fullerton
- Stephen McGarvey
- Stephen Rich
- Steven Lubitz
- Steven Salzberg
- Su H. Chu
- Susan Dutcher
- Susan Heckbert
- Susan Mathai
- Susan Redline
- Sylvia Smoller
- Tamar Sofer
- Tanja Smith
- Tarik Walker
- Tarunveer S. Ahluwalia
- Tasha Fingerlin
- Terri Beaty
- Thomas Blackwell
- Tim Assimes
- Tim O'Connor
- Timothy A. Thornton
- Toni Pollin
- Torgerson
- Ulrich Broeckel
- Ulrike Peters
- Vasan Ramachandran
- Verlaan
- Vijay Sankaran
- Vivien Sheehan
- Wang
- Wayne Hui-Heng Sheu
- Wei Zhao
- Wei-Min Chen
- Weinberger
- Weiniu Gan
- Wells
- Wen-Jane Lee
- Wendy Post
- Xiang Zhou
- Xiaoqi (Priscilla) Geng
- Xiuqing Guo
- Xiuwen Zheng
- Yamini V. Virkud
- Yan Gao
- Yang
- Yii-Der Ida Chen
- Yingze Zhang
- Yongmei Liu
- Yue Guan
- Yun Ju Sung
- Yun Li
- Zaykin
- Zhang
- Zhaohui Qin
- Publication venue
- 'Elsevier BV'
- Publication date
- Field of study