A likelihood ratio-based method to predict exact pedigrees for complex families from next-generation sequencing data.

ABSTRACT:

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 prioritize candidates, however, these approaches require correct information about the degree of relationship among the sequenced samples. For quality assurance an automated control of pedigree structures and sample assignment is therefore highly desirable in order to detect label mix-ups that might otherwise corrupt downstream analysis.

Results

We developed an algor

SUBMITTER: Heinrich V 

PROVIDER: S-EPMC5408770 | biostudies-literature | 2017 Jan

REPOSITORIES: biostudies-literature