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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...

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Bibliographische Detailangaben
Hauptverfasser: Hu, Hao, Huff, Chad D, Moore, Barry, Flygare, Steven, Reese, Martin G, Yandell, Mark
Format: Artigo
Sprache:Inglês
Veröffentlicht: Blackwell Publishing Ltd 2013
Schlagworte:
Online Zugang:https://ncbi.nlm.nih.gov/pmc/articles/PMC3791556/
https://ncbi.nlm.nih.gov/pubmed/23836555
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/gepi.21743
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