TY - JOUR AU - Schlesner, Matthias AU - Bartram, Claus R. AU - Eils, Roland AU - Wiemann, Stefan AU - Hinderhofer, Katrin AU - Paramasivam, Nagarajan AU - Granzow, Martin AU - Evers, Christina PY - 2018 DA - 2018/04/16 TI - Identification and Prioritization of Causal Variants of Human Genetic Disorders from Exome or Whole Genome Sequencing Data JO - OBM Genetics SP - 017 VL - 02 IS - 02 AB - With genome sequencing entering the clinics as 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. SN - 2577-5790 UR - https://doi.org/10.21926/obm.genet.1802017 DO - 10.21926/obm.genet.1802017 ID - Schlesner2018 ER -