Assessing the Pathogenicity of Insertion and Deletion Variants with the Variant Effect Scoring Tool (VEST‐Indel)

Insertion/deletion variants (indels) alter protein sequence and length, yet are highly prevalent in healthy populations, presenting a challenge to bioinformatics classifiers. Commonly used features—DNA and protein sequence conservation, indel length, and occurrence in repeat regions—are useful for i...

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Detalhes bibliográficos
Publicado no:Hum Mutat
Main Authors: Douville, Christopher, Masica, David L., Stenson, Peter D., Cooper, David N., Gygax, Derek M., Kim, Rick, Ryan, Michael, Karchin, Rachel
Formato: Artigo
Idioma:Inglês
Publicado em: John Wiley and Sons Inc. 2015
Assuntos:
Informatics
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC5057310/
https://ncbi.nlm.nih.gov/pubmed/26442818
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/humu.22911
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