Disease associations

ClinVar / dbSNP

Some gene variants are directly linked to disease or risk. Genome matches detected variants against curated databases such as ClinVar and dbSNP and orders them by evidence. The report separates documented findings from mere hits.

Evidence before completeness

Genome favours documented statements. Variants without a curated interpretation are not reported as risk. Clinically sensitive content can be suppressed in the report so that technical evidence and medical interpretation stay cleanly separated.

Limits

Databases are not error-free and reflect the current state of knowledge. A variant listed as pathogenic can be reclassified. Genome names the source and the retrieval date so findings stay traceable and verifiable.

What Genome measures. SNP and small indel variants with rsID, genotype and, where available, clinical significance and source evidence. HLA-based associations are carried along in medical genomics.

Related topics

Polygenic scoresPharmacogenetics

Sources

  1. 1Landrum et al., 2018 ClinVar: improving access to variant interpretations and supporting evidence. Nucleic Acids Research 46:D1062–D1067. doi.org/10.1093/nar/gkx1153
  2. 2Sherry et al., 2001 dbSNP: the NCBI database of genetic variation. Nucleic Acids Research 29:308–311. doi.org/10.1093/nar/29.1.308
  3. 3Richards et al., 2015 Standards and guidelines for the interpretation of sequence variants (ACMG/AMP). Genetics in Medicine 17:405–424. doi.org/10.1038/gim.2015.30