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Matching whole genomes to rare genetic disorders: Identification of potential causative variants using phenotype-weighted knowledge in the CAGI SickKids5 clinical genomes challenge

Precise identification of causative variants from whole-genome sequencing data, including both coding and non-coding variants, is challenging. The CAGI5 SickKids clinical genome challenge provided an opportunity to assess our ability to extract such information. Participants in the challenge were re...

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Detalhes bibliográficos
Publicado no:Hum Mutat
Main Authors: Pal, Lipika R., Kundu, Kunal, Yin, Yizhou, Moult, John
Formato: Artigo
Idioma:Inglês
Publicado em: 2019
Assuntos:
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC7182498/
https://ncbi.nlm.nih.gov/pubmed/31680375
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/humu.23933
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