Article

Sensitive alignment using paralogous sequence variants improves long read mapping and variant calling in segmental duplications

2020-07-16

Abstract excerpt

The ability to characterize repetitive regions of the human genome is limited by the read lengths of short-read sequencing technologies. Although long-read sequencing technologies such as Pacific Biosciences and Oxford Nanopore can potentially overcome this limitation, long segmental duplications with high sequence identity pose challenges for long-read mapping. We describe a probabilistic method, DuploMap, design...

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Literature Corpus work: e81c5155-7bc4-526c-92cf-526ad6e3d64e
DOI: 10.1101/2020.07.15.202929

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