Rare variant phasing and haplotypic expression from RNA sequencing with phASER

Genome interpretation and analysis of allelic activity requires appropriate haplotype phasing. Here the authors present phASER, a fast and accurate method for variant phrasing from RNA-seq and genome sequencing data.

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Detalles Bibliográficos
Autores principales: Stephane E. Castel, Pejman Mohammadi, Wendy K. Chung, Yufeng Shen, Tuuli Lappalainen
Formato: article
Lenguaje:EN
Publicado: Nature Portfolio 2016
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Acceso en línea:https://doaj.org/article/5799626931844ad1a8ca2789b37bae49
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Descripción
Sumario:Genome interpretation and analysis of allelic activity requires appropriate haplotype phasing. Here the authors present phASER, a fast and accurate method for variant phrasing from RNA-seq and genome sequencing data.