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Gene Filters

The Gene Filters allow filtering variants by genes or specific regions:

  • All Disease Associated Genes - variants in the genes with a published disease association;

  • All Unknown Genes - variants in the genes of unknown clinical significance;

  • Candidate Genes - variants in a Gene list if defined during case creation;

  • All ACMG genes - variants in the clinically actionable genes defined by the ACMG:

  • Cancer Associated Genes - variants in genes with published association with oncological disease;

  • LoF Genes (Emedgene Knowledgebase 26+) - variants in extremely LoF intolerant genes (gnomAD pLI ≥ 0.9). Note: if a variant is a CNV that overlaps more than one gene, it will appear in the filtering results if at least one of the genes has gnomAD pLI ≥ 0.9);

  • Established HI/TS Genes (Emedgene Knowledgebase 26+) - variants in genes with sufficient evidence of dosage sensitivity (defined by having ClinGen's Haploinsufficiency and/or Triplosensitivity scores of 3);

  • Coding regions - variants restricted to the protein-coding sequences.


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