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Article

Fine-scale characterization of genomic structural variation in the human genome reveals adaptive and biomedically relevant hotspots

2018-04-04

Abstract excerpt

Genomic structural variants (SVs) are distributed nonrandomly across the human genome. These “hotspots” have been implicated in critical evolutionary innovations, as well as serious medical conditions. However, the evolutionary and biomedical features of these hotspots remain incompletely understood. In this study, we analyzed data from 2,504 genomes from the 1000 Genomes Project Consortium and constructed a refin...

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Literature Corpus work
add2fa02-4e60-570e-bc1c-15275d4e5822
DOI
10.1101/294322
Open publication

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Fine-scale characterization of genomic structural variation in the human genome reveals adaptive and biomedically relevant hotspotsDOI 10.1101/294322
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