Oct 29, 2017

Identification and prioritisation of causal variants in human genetic disorders from exome or whole genome sequencing data

BioRxiv : the Preprint Server for Biology
Nagarajan ParamasivamMatthias Schlesner


With genome sequencing entering the clinics as a diagnostic tool to study genetic disorders, there is an increasing need for bioinformatics solutions that enable precise causal variant identification in a timely manner. Background: Workflows for the identification of candidate disease-causing variants perform usually the following tasks: i) identification of variants; ii) filtering of variants to remove polymorphisms and technical artifacts; and iii) prioritization of the remaining variants to provide a small set of candidates for further analysis. Methods: Here, we present a pipeline designed to identify variants and prioritize the variants and genes from trio sequencing or pedigree-based sequencing data into different tiers. Results: We show how this pipeline was applied in a study of patients with neurodevelopmental disorders of unknown cause, where it helped to identify the causal variants in more than 35% of the cases. Conclusions: Classification and prioritization of variants into different tiers helps to select a small set of variants for downstream analysis.

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Mentioned in this Paper

Gene Polymorphism
Genetic Disorders Screening
Genetic Analysis
Neurodevelopmental Disorders
Genetic Markers

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