VarRanker: rapid prioritization of sequence variations associated with human disease.

ABSTRACT:

Background

Identification of the genetic alterations responsible for human disease is a central challenge facing medical genetics. While many algorithms have been developed to predict the degree of damage caused by a given sequence alteration, few tools are able to incorporate information about a given phenotype of interest.

Methods

Here, we describe an algorithm and web-based application which take into account both the probability that a variant damages the function of a gene as well as the relevance of the gene to a given phenotype. Phenotypes are described by a list of scored terms supplied by the user. These terms are then used to search a variety of public databases including NCBI gene summaries, PubMed abstracts, and Gene Ontology terms, and protein-protein interactio

SUBMITTER: O'Fallon BD 

PROVIDER: S-EPMC3849749 | biostudies-literature | 2013

REPOSITORIES: biostudies-literature