Variability in laboratory reporting practices for regions of homozygosity indicating parental relatedness as identified by SNP microarray testing | Zendy

Lauren Grote | Zendy; Melanie F. Myers | Zendy; Anne M. Lovell | Zendy; Howard M. Saal | Zendy; Kristen L. Sund | Zendy

Open Access

Variability in laboratory reporting practices for regions of homozygosity indicating parental relatedness as identified by SNP microarray testing

Author(s) -

Lauren Grote,

Melanie F. Myers,

Anne M. Lovell,

Howard M. Saal,

Kristen L. Sund

Publication year - 2012

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.2012.83

Subject(s) - snp , snp array , consanguinity , microarray , runs of homozygosity , microarray analysis techniques , genetics , single nucleotide polymorphism , biology , medicine , gene , genotype , gene expression

Single-nucleotide polymorphism (SNP) microarrays are capable of detecting regions of homozygosity (ROH) that can suggest parental consanguinity or incest. This study was designed to describe the variable reporting practices of clinical laboratories in the United States regarding ROH found on SNP microarray tests, to discuss the follow-up practices of laboratory personnel when findings of ROH indicate consanguinity or incest, and to highlight the legal and ethical dilemmas faced by workers who have discovered these incidental findings.

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