Ontology highlight
ABSTRACT:
SUBMITTER: Kasak L
PROVIDER: S-EPMC7318886 | biostudies-literature | 2019 Sep
REPOSITORIES: biostudies-literature
Kasak Laura L Hunter Jesse M JM Udani Rupa R Bakolitsa Constantina C Hu Zhiqiang Z Adhikari Aashish N AN Babbi Giulia G Casadio Rita R Gough Julian J Guerrero Rafael F RF Jiang Yuxiang Y Joseph Thomas T Katsonis Panagiotis P Kotte Sujatha S Kundu Kunal K Lichtarge Olivier O Martelli Pier Luigi PL Mooney Sean D SD Moult John J Pal Lipika R LR Poitras Jennifer J Radivojac Predrag P Rao Aditya A Sivadasan Naveen N Sunderam Uma U Saipradeep V G VG Yin Yizhou Y Zaucha Jan J Brenner Steven E SE Meyn M Stephen MS
Human mutation 20190903 9
Whole-genome sequencing (WGS) holds great potential as a diagnostic test. However, the majority of patients currently undergoing WGS lack a molecular diagnosis, largely due to the vast number of undiscovered disease genes and our inability to assess the pathogenicity of most genomic variants. The CAGI SickKids challenges attempted to address this knowledge gap by assessing state-of-the-art methods for clinical phenotype prediction from genomes. CAGI4 and CAGI5 participants were provided with WGS ...[more]