Article

Rare Variant Phasing and Haplotypic Expression from RNA-Sequencing with phASER

2016-02-12

Abstract excerpt

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, a fast and accurate approach for phasing variants that are overlapped by sequencing reads, including those from RNA-sequencing (RNA-seq), which often span multiple exons due to splicing. This provides 1) dramatically...

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Literature Corpus work: b241f737-f9a5-5978-93a2-dbd173e93d12
DOI: 10.1101/039529

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