Article
Filtering for compound heterozygous sequence variants in non-consanguineous pedigrees.
PloS one - 1 Jan 2013
Kamphans Tom, Sabri Peggy, Zhu Na, Heinrich Verena, Mundlos Stefan, Robinson Peter N, Parkhomchuk Dmitri, Krawitz Peter M
Abstract excerpt
The identification of disease-causing mutations in next-generation sequencing (NGS) data requires efficient filtering techniques. In patients with rare recessive diseases, compound heterozygosity of pathogenic mutations is the most likely inheritance model if the parents are non-consanguineous. W...
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