Article

A Diploid Assembly-based Benchmark for Variants in the Major Histocompatibility Complex

2019-11-05

Abstract excerpt

We develop the first human benchmark derived from a diploid assembly for the openly-consented Genome in a Bottle/Personal Genome Project Ashkenazi son (HG002). As a proof-of-principle, we focus on a medically important, highly variable, 5 million base-pair region - the Major Histocompatibility Complex (MHC). Most human genomes are characterized by aligning individual reads to the reference genome, but accurate lon...

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Literature Corpus work: d57e1d37-0296-5d23-814c-a2dc79e52dd8
DOI: 10.1101/831792

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