Article

Sex-specific recombination predicts parent of origin for recurrent genomic disorders

2020-06-02

Abstract excerpt

<h4>SUMMARY</h4> Genomic disorders are caused by structural rearrangements of the genome that generally occur during meiosis 1 . Often the rearrangements result in large-scale (> 1 kb) copy number variants (CNV; deletions or duplications ≥ 1 kb) 2,3 . Recurrent pathogenic CNVs harbor similar breakpoints in multiple unrelated individuals and are primarily formed via non-allelic homologous recombination (NAHR) 3...

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Literature Corpus work: fcc34b05-7754-5316-ab73-f0dd290fad2d
DOI: 10.1101/2020.06.01.128553

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