American College of Medical Genetics and Genomics: standards and guidelines for documenting suspected consanguinity as an incidental finding of genomic ... View Full Text


Ontology type: schema:ScholarlyArticle      Open Access: True


Article Info

DATE

2013-02

AUTHORS

Catherine W. Rehder, 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. More... »

PAGES

150

References to SciGraph publications

Identifiers

URI

http://scigraph.springernature.com/pub.10.1038/gim.2012.169

DOI

http://dx.doi.org/10.1038/gim.2012.169

DIMENSIONS

https://app.dimensions.ai/details/publication/pub.1026527739

PUBMED

https://www.ncbi.nlm.nih.gov/pubmed/23328890


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