학술논문
Evaluating the performance of a clinical genome sequencing program for diagnosis of rare genetic disease, seen through the lens of craniosynostosis
Document Type
Article
Author
Hyder, Zerin; Calpena, Eduardo; Pei, Yang; Tooze, Rebecca S.; Brittain, Helen; Twigg, Stephen R.F.; Cilliers, Deirdre; Morton, Jenny E.V.; McCann, Emma; Weber, Astrid; Wilson, Louise C.; Douglas, Andrew G.L.; McGowan, Ruth; Need, Anna; Bond, Andrew; Tavares, Ana Lisa Taylor; Thomas, Ellen R.A.; Ambrose, John C.; Arumugam, Prabhu; Bevers, Roel; Bleda, Marta; Boustred, Christopher R.; 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; 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; Siddiq, Afshan; Sieghart, Alexander; Smith, Samuel C.; Sosinsky, Alona; Stuckey, Alexander; Tanguy, Mélanie; Thompson, Simon R.; Tucci, Arianna; Welland, Matthew J.; Williams, Eleanor; Witkowska, Katarzyna; Wood, Suzanne M.; Hill, Susan L.; Deans, Zandra C.; Boardman-Pretty, Freya; Caulfield, Mark; Scott, Richard H.; Wilkie, Andrew O.M.
Source
Genetics in Medicine; December 2021, Vol. 23 Issue: 12 p2360-2368, 9p
Subject
Language
ISSN
10983600; 15300366
Abstract
Genome sequencing (GS) for diagnosis of rare genetic disease is being introduced into the clinic, but the complexity of the data poses challenges for developing pipelines with high diagnostic sensitivity. We evaluated the performance of the Genomics England 100,000 Genomes Project (100kGP) panel-based pipelines, using craniosynostosis as a test disease.