Towards pan-genome read alignment to improve variation calling

Towards pan-genome read alignment to improve variation calling

Abstract Background Typical human genome differs from the reference genome at 4-5 million sites. This diversity is increasingly catalogued in repositories such as ExAC/gnomAD, consisting of >15,000 whole-genomes and >126,000 exome sequences from different individuals. Despite this enormous div...

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Bibliographic Details
Main Authors: Daniel Valenzuela, Tuukka Norri, Niko Välimäki, Esa Pitkänen, Veli Mäkinen
Format: Article
Language:English
Published: BMC 2018-05-01
Series:BMC Genomics
Subjects:
Pan-genome reference
Variation calling
Read alignment
Online Access:http://link.springer.com/article/10.1186/s12864-018-4465-8

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http://link.springer.com/article/10.1186/s12864-018-4465-8

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