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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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| Main Authors: | , , , , |
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| Formato: | Artigo |
| Idioma: | Inglês |
| Publicado em: |
BioMed Central
2013
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| Assuntos: | |
| Acesso em linha: | https://ncbi.nlm.nih.gov/pmc/articles/PMC3665549/ https://ncbi.nlm.nih.gov/pubmed/23819870 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/1471-2164-14-S3-S3 |
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