A comprehensive global genotype–phenotype database for rare diseases

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.

• Publication year

  2016

• Venue

  Molecular Genetics & Genomic Medicine

• Publication date

  2016-11-23

• Fields of study

  Biology, Medicine, Computer Science

• Identifiers
  DOI 10.1002/mgg3.262PMID 28116331PMCID 5241210
• External record

  Open on Semantic Scholar

• Source metadata

  Semantic Scholar, PubMed

• No claims are published for this paper.

• No concepts are published for this paper.

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