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
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Published:2024
Issue:
Volume:2
Page:101834
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ISSN:2949-7744
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Container-title:Genetics in Medicine Open
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language:en
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Short-container-title:Genetics in Medicine Open
Author:
Olinger Eric, Wilson Ian J., Orr Sarah, Barroso-Gil Miguel, Neatu Ruxandra, 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., Atan Denize, Sayer John A.ORCID
Funder
Kidney Research UK Swiss National Science Foundation Northern Counties Kidney Research Fund LifeArc Medical Research Council
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