| Literature DB >> 23328890 |
Catherine W Rehder1, Karen L David, Betsy Hirsch, Helga V Toriello, Carolyn M Wilson, Hutton M Kearney.
Abstract
Genomic testing, including single-nucleotide polymorphism-based microarrays and whole-genome sequencing, can detect long stretches of the genome that display homozygosity. The presence of these segments, when distributed across multiple chromosomes, can indicate a familial relationship between the proband's parents. This article describes the detection of possible consanguinity by genomic testing and the factors confounding the inference of a specific p-arental relationship. It is designed to guide the documentation of suspected consanguinity by clinical laboratory professionals and to alert laboratories to the need to establish a reporting policy in conjunction with their ethics review committee and legal counsel.Entities:
Mesh:
Year: 2013 PMID: 23328890 DOI: 10.1038/gim.2012.169
Source DB: PubMed Journal: Genet Med ISSN: 1098-3600 Impact factor: 8.822