Article
Rapid Detection of Rare Deleterious Variants by Next Generation Sequencing with Optional Microarray SNP Genotype Data.
Human mutation - 1 Sept 2015
Watson Christopher M, Crinnion Laura A, Gurgel-Gianetti Juliana, Harrison Sally M, Daly Catherine, Antanavicuite Agne, Lascelles Carolina, Markham Alexander F, Pena Sergio D J, Bonthron David T, Carr Ian M
Abstract excerpt
Autozygosity mapping is a powerful technique for the identification of rare, autosomal recessive, disease-causing genes. The ease with which this category of disease gene can be identified has greatly increased through the availability of genome-wide SNP genotyping microarrays and subsequently of exome sequencing. Although these methods have simplified the generation of experimental data, its analysis,...
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