CAGI SickKids challenges: Assessment of phenotype and variant predictions derived from clinical and genomic data of children with undiagnosed diseases

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 CA...

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Published in:Hum Mutat
Main Authors: Kasak, Laura, Hunter, Jesse M., Udani, Rupa, Bakolitsa, Constantina, Hu, Zhiqiang, Adhikari, Aashish N., Babbi, Giulia, Casadio, Rita, Gough, Julian, Guerrero, Rafael F., Jiang, Yuxiang, Joseph, Thomas, Katsonis, Panagiotis, Kotte, Sujatha, Kundu, Kunal, Lichtarge, Olivier, Martelli, Pier Luigi, Mooney, Sean D., Moult, John, Pal, Lipika R., Poitras, Jennifer, Radivojac, Predrag, Rao, Aditya, Sivadasan, Naveen, Sunderam, Uma, VG, Saipradeep, Yin, Yizhou, Zaucha, Jan, Brenner, Steven E., Meyn, M. Stephen
Format: Artigo
Language:Inglês
Published: 2019
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Article
Online Access:https://ncbi.nlm.nih.gov/pmc/articles/PMC7318886/
https://ncbi.nlm.nih.gov/pubmed/31322791
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/humu.23874
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