Most Likely Candidates and Candidates

To streamline case review, the AI Shortlist pre-selects the list of variants likely to be causative for each case:

Most Likely Candidates

Variants that are most promising for solving the case. This list is limited to 10 top-scored variants but may include more if more than one variant is tagged per gene (suggesting compound heterozygosity). We can change the Most Likely Candidates number limit upon request.

Candidates

Several dozen highly scored variants worth considering.

As of version 30.0 and onwards, the ranking of variants by AI Shortlist considers both SNVs and CNVs, including SNV + CNV compound heterozygotes. Starting from version 32.0, AI Shortlist additionally considers SVs, mtDNA variants and STRs.

The AI Shortlist rates variants based on predicted variant effects, alternative allele frequency, familial segregation pattern, phenotypic match, in silico predictions, and other relevant information from scientific papers and databases.

During the case review, you can untag variants selected by the AI Shortlist or manually tag ones not selected by the AI Shortlist.