Patterns of homozygosity in patients with uniparental disomy: detection rate and suggested reporting thresholds for SNP microarrays | Zendy

Nicole L. Hoppman | Zendy; Kandelaria M. Rumilla | Zendy; Emily Lauer | Zendy; Hutton M. Kearney | Zendy; Erik C. Thorland | Zendy

Open Access

Patterns of homozygosity in patients with uniparental disomy: detection rate and suggested reporting thresholds for SNP microarrays

Author(s) -

Nicole L. Hoppman,

Kandelaria M. Rumilla,

Emily Lauer,

Hutton M. Kearney,

Erik C. Thorland

Publication year - 2018

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 - 10.1038/gim.2018.24

Subject(s) - uniparental disomy , snp , single nucleotide polymorphism , population , snp array , medicine , genetics , chromosome , biology , karyotype , genotype , gene , environmental health

Single-nucleotide polymorphism (SNP) microarrays can easily identify whole-chromosome isodisomy but are unable to detect whole-chromosome heterodisomy. However, most cases of uniparental disomy (UPD) involve combinations of heterodisomy and isodisomy, visualized on SNP microarrays as long continuous stretches of homozygosity (LCSH). LCSH raise suspicion for, but are not diagnostic of, UPD, and reporting necessitates confirmatory testing. The goal of this study was to define optimal LCSH reporting standards.

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