Article

Systematic analysis of dark and camouflaged genes: disease-relevant genes hiding in plain sight

2019-01-09

Abstract excerpt

<h4>Background</h4> The human genome contains ‘dark’ gene regions that cannot be adequately assembled or aligned using standard short-read sequencing technologies, preventing researchers from identifying mutations within these gene regions that may be relevant to human disease. Here, we identify regions that are ‘dark by depth’ (few mappable reads) and others that are ‘camouflaged’ (ambiguous alignment), and we a...

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Literature Corpus work: 4ce52e47-ba15-5c82-85e5-63c294d9d0f4
DOI: 10.1101/514497

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