Identifying Mendelian disease genes with the Variant Effect Scoring Tool

BACKGROUND: Whole exome sequencing studies identify hundreds to thousands of rare protein coding variants of ambiguous significance for human health. Computational tools are needed to accelerate the identification of specific variants and genes that contribute to human disease. RESULTS: We have deve...

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Detalles Bibliográficos
Autores principales: Carter, Hannah, Douville, Christopher, Stenson, Peter D, Cooper, David N, Karchin, Rachel
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2013
Materias:
Research
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3665549/
https://www.ncbi.nlm.nih.gov/pubmed/23819870
http://dx.doi.org/10.1186/1471-2164-14-S3-S3

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3665549/
https://www.ncbi.nlm.nih.gov/pubmed/23819870
http://dx.doi.org/10.1186/1471-2164-14-S3-S3

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