Copy-number analysis from genome sequencing data of 11,754 rare-disease parent-child trios: A model for identifying autosomal recessive human gene knockouts including a novel gene for autosomal recessive retinopathy
Resource Type
Short Communication
Authors
Ambrose, John C. ; Arumugam, Prabhu ; Bevers, Roel ; Bleda, Marta ; Boardman-Pretty, Freya ; Boustred, Christopher R. ; Brittain, Helen ; Caulfield, Mark J. ; Chan, Georgia C. ; Elgar, Greg ; Fowler, Tom ; Giess, Adam ; Hamblin, Angela ; Henderson, Shirley ; Hubbard, Tim J.P. ; Jackson, Rob ; Jones, Louise J. ; Kasperaviciute, Dalia ; Kayikci, Melis ; Kousathanas, Athanasios ; Lahnstein, Lea ; Leigh, Sarah E.A. ; Leong, Ivonne U.S. ; Lopez, Javier F. ; Maleady-Crowe, Fiona ; McEntagart, Meriel ; Minneci, Federico ; Moutsianas, Loukas ; Mueller, Michael ; Murugaesu, Nirupa ; Need, Anna C. ; O’Donovan, Peter ; Odhams, Chris A. ; Patch, Christine ; Pereira, Mariana Buongermino ; Perez-Gil, Daniel ; Pullinger, John ; Rahim, Tahrima ; Rendon, Augusto ; Rogers, Tim ; Savage, Kevin ; Sawant, Kushmita ; Scott, Richard H. ; Siddiq, Afshan ; Sieghart, Alexander ; Smith, Samuel C. ; Sosinsky, Alona ; Stuckey, Alexander ; Tanguy, Mélanie ; Taylor Tavares, Ana Lisa ; Thomas, Ellen R.A. ; Thompson, Simon R. ; Tucci, Arianna ; Welland, Matthew J. ; Williams, Eleanor ; Witkowska, Katarzyna ; Wood, Suzanne M. ; Olinger, Eric ; Wilson, Ian J. ; Orr, Sarah ; Barroso-Gil, Miguel ; Neatu, Ruxandra ; Atan, Denize ; Sayer, John A.
Source
In Genetics in Medicine Open 2024 2
Subject
Language
ISSN
2949-7744