Graph-based genome alignment and genotyping with HISAT2 and HISAT-genotype
Abstract
The human reference genome represents only a small number of individuals, which limits its usefulness for genotyping. We present a method named HISAT2 (hierarchical indexing for spliced alignment of transcripts 2) that can align both DNA and RNA sequences using a graph Ferragina Manzini index. We use HISAT2 to represent and search an expanded model of the human reference genome in which over 14.5 million genomic variants in combination with...
Paper Details
Title
Graph-based genome alignment and genotyping with HISAT2 and HISAT-genotype
Published Date
Aug 1, 2019
Journal
Volume
37
Issue
8
Pages
907 - 915
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