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GeneVetter: a web tool for quantitative monogenic assessment of rare diseases

Summary: When performing DNA sequencing to diagnose affected individuals with monogenic forms of rare diseases, accurate attribution of causality to detected variants is imperative but imperfect. Even if a gene has variants already known to cause a disease, rare disruptive variants predicted to be c...

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Detalhes bibliográficos
Publicado no:Bioinformatics
Main Authors: Gillies, Christopher E., Robertson, Catherine C., Sampson, Matthew G., Kang, Hyun Min
Formato: Artigo
Idioma:Inglês
Publicado em: Oxford University Press 2015
Assuntos:
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC4643620/
https://ncbi.nlm.nih.gov/pubmed/26209433
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1093/bioinformatics/btv432
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