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VAAST 2.0: Improved Variant Classification and Disease-Gene Identification Using a Conservation-Controlled Amino Acid Substitution Matrix
The need for improved algorithmic support for variant prioritization and disease-gene identification in personal genomes data is widely acknowledged. We previously presented the Variant Annotation, Analysis, and Search Tool (VAAST), which employs an aggregative variant association test that combines...
Autores principales: | Hu, Hao, Huff, Chad D, Moore, Barry, Flygare, Steven, Reese, Martin G, Yandell, Mark |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Blackwell Publishing Ltd
2013
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Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3791556/ https://www.ncbi.nlm.nih.gov/pubmed/23836555 http://dx.doi.org/10.1002/gepi.21743 |
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