Article
Shadow autozygosity mapping by linkage exclusion (SAMPLE): a simple strategy to identify the genetic basis of lethal autosomal recessive disorders.
Human mutation - 1 Dec 2009
Carr Ian M, Szymanska Katarzyna, Sheridan Eamonn, Markham Alexander F, Bonthron David T, Johnson Colin A
Abstract excerpt
Autozygosity mapping has been invaluable for determining the genetic basis of lethal autosomal recessive disorders, but this approach remains challenging because DNA from affected individuals may often be unavailable or of insufficient quality for extensive molecular genetic studies. To circumvent these difficulties, we developed a computer program called "SAMPLE" (for shadow autozygosity mapping by linkage...
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