Open AccesseP390: Leveraging unique chromosomal microarray probes to resolve complex copy number variation at the highly homologous deafness-infertility syndrome locus at 15q15.3
Author(s) -
Laura M. Sack,
Lauren Mertens,
Elissa Murphy,
Laura Hutchinson,
Anne B.S. Giersch,
Heather MasonSuares
Publication year - 2022
Publication title -
genetics in medicine
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 3.509
H-Index - 128
eISSN - 1530-0366
pISSN - 1098-3600
DOI - 10.1016/j.gim.2022.01.425
Subject(s) - locus (genetics) , genetics , copy number variation , biology , pseudogene , gene duplication , hearing loss , homologous chromosome , gene , population , structural variation , medicine , genome , audiology , environmental health
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