Leveraging network analytics to infer patient syndrome and identify causal genes in rare disease cases.

ABSTRACT:

Background

Next-generation sequencing is widely used to identify disease-causing variants in patients with rare genetic disorders. Identifying those variants from whole-genome or exome data can be both scientifically challenging and time consuming. A significant amount of time is spent on variant annotation, and interpretation. Fully or partly automated solutions are therefore needed to streamline and scale this process.

Results

We describe Phenotype Driven Ranking (PDR), an algorithm integrated into Ingenuity Variant Analysis, that uses observed patient phenotypes to prioritize diseases and genes in order to expedite causal-variant discovery. Our method is based on a network of phenotype-disease-gene relationships derived from the QIAGEN Knowledge Base, which allows for eff

SUBMITTER: Kramer A 

PROVIDER: S-EPMC5558185 | biostudies-literature | 2017 Aug

REPOSITORIES: biostudies-literature