A comprehensive global genotype-phenotype database for rare diseases.

ABSTRACT:

Background

The ability to discover genetic variants in a patient runs far ahead of the ability to interpret them. Databases with accurate descriptions of the causal relationship between the variants and the phenotype are valuable since these are critical tools in clinical genetic diagnostics. Here, we introduce a comprehensive and global genotype-phenotype database focusing on rare diseases.

Methods

This database (CentoMD ^®) is a browser-based tool that enables access to a comprehensive, independently curated system utilizing stringent high-quality criteria and a quickly growing repository of genetic and human phenotype ontology (HPO)-based clinical information. Its main goals are to aid the evaluation of genetic variants, to enhance the validity of the genetic an

SUBMITTER: Trujillano D 

PROVIDER: S-EPMC5241210 | biostudies-literature | 2017 Jan

REPOSITORIES: biostudies-literature