Article
A likelihood ratio-based method to predict exact pedigrees for complex families from next-generation sequencing data.
Bioinformatics (Oxford, England) - 1 Jan 2017
Heinrich Verena, Kamphans Tom, Mundlos Stefan, Robinson Peter N, Krawitz Peter M
Abstract excerpt
MOTIVATION: Next generation sequencing technology considerably changed the way we screen for pathogenic mutations in rare Mendelian disorders. However, the identification of the disease-causing mutation amongst thousands of variants of partly unknown relevance is still challenging and efficient techniques that reduce the genomic search space play a decisive role. Often segregation- or linkage analysis are used to...
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