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Rare variant phasing and haplotypic expression from RNA sequencing with phASER

Haplotype phasing of genetic variants is important for clinical interpretation of the genome, population genetic analysis and functional genomic analysis of allelic activity. Here we present phASER, an accurate approach for phasing variants that are overlapped by sequencing reads, including those fr...

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Detalles Bibliográficos
Autores principales: Castel, Stephane E., Mohammadi, Pejman, Chung, Wendy K., Shen, Yufeng, Lappalainen, Tuuli
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Nature Publishing Group 2016
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5025529/
https://www.ncbi.nlm.nih.gov/pubmed/27605262
http://dx.doi.org/10.1038/ncomms12817