Article
AutozygosityMapper: Identification of disease-mutations in consanguineous families.
Nucleic acids research - 5 Jul 2022
Steinhaus Robin, Boschann Felix, Vogel Melanie, Fischer-Zirnsak Björn, Seelow Dominik
Abstract excerpt
With the shift from SNP arrays to high-throughput sequencing, most researchers studying diseases in consanguineous families do not rely on linkage analysis any longer, but simply search for deleterious variants which are homozygous in all patients. AutozygosityMapper allows the fast and convenient identification of disease mutations in patients from consanguineous pedigrees by focussing on homozygous segments...
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