Article

A reference dataset of 5.4 million phased human variants validated by genetic inheritance from sequencing a three-generation 17-member pedigree

2016-05-26

Abstract excerpt

Improvement of variant calling in next-generation sequence data requires a comprehensive, genome-wide catalogue of high-confidence variants called in a set of genomes for use as a benchmark. We generated deep, whole-genome sequence data of seventeen individuals in a three-generation pedigree and called variants in each genome using a range of currently available algorithms. We used haplotype transmission informati...

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Literature Corpus work: 9decab1c-f1a2-5ba4-ada4-da5ad7904324
DOI: 10.1101/055541

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