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Clintegrate: Integrated predictions of clinical risk

Clintegrate provides clinical risk assessments that are personalized for individuals who carry genetic variants in well-known disease genes such as BRCA1 and LDLR. Many healthy people carry genetic variants in these disease genes, yet the risk of developing the related disorder is low for most of them.

s_het: Gene-based selection scores

On this site, we share gene-based estimates of selection strength for heterozygous protein truncating variants.

Tocayo: Identifying variants with evidence of pathogenicity

Tocayo is a pipeline for analyzing sequence variants which have evidence of pathogenicity according to the PS1, PM5, and PVS1 guidelines specified by the ACMG/AMP. Specifically, the pipeline is meant to analyze VUS in ClinVar and other unclassified nsSNVs.

Gene-based relevance scores from published literature

On this site, we share gene-based estimates of relative clinical importance using the number of cited variants in each gene that are associated with disease.