Article

Small variant benchmark from a complete assembly of X and Y chromosomes

2023-11-01

Abstract excerpt

The sex chromosomes contain complex, important genes impacting medical phenotypes, but differ from the autosomes in their ploidy and large repetitive regions. To evaluate variant detection on chromosomes X and Y, we created an 111,725 variant benchmark for the Genome in a Bottle HG002 reference material. We show how complete assemblies can expand benchmarks to difficult regions, but highlight remaining challenges...

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Literature Corpus work: c600cc7c-e783-5b12-88b4-d5e231e4b401
DOI: 10.1101/2023.10.31.564997

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