Inferring gene-to-phenotype and gene-to-disease relationships at Mouse Genome Informatics: challenges and solutions

ABSTRACT:

Background

Inferring gene-to-phenotype and gene-to-human disease model relationships from annotated mouse phenotypes and disease associations is critical when researching gene function and identifying candidate disease genes. Filtering the various kinds of genotypes to determine which phenotypes are caused by a mutation in a particular gene can be a laborious and time-consuming process.

Methods

At Mouse Genome Informatics (MGI, www.informatics.jax.org), we have developed a gene annotation derivation algorithm that computes gene-to-phenotype and gene-to-disease annotations from our existing corpus of annotations to genotypes. This algorithm differentiates between simple genotypes with causative mutations in a single gene and more complex genotypes where mutations in multip

SUBMITTER: Bello S 

PROVIDER: S-EPMC5143442 | biostudies-literature | 2016 Jan

REPOSITORIES: biostudies-literature