Whole genome sequencing for quantifying germline mutation frequency in humans and model species: cautious optimism

MA Beal, TC Glenn, CM Somers - Mutation Research/Reviews in Mutation …, 2012 - Elsevier
Factors affecting the type and frequency of germline mutations in animals are of significant
interest from health and toxicology perspectives. However, studies in this field have been
limited by the use of markers with low detection power or uncertain relevance to phenotype.
Whole genome sequencing (WGS) is now a potential option to directly determine germline
mutation type and frequency in family groups at all loci simultaneously. Medical studies have
already capitalized on WGS to identify novel mutations in human families for clinical …
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