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.
The ranking of variants by AI Shortlist considers:
SNVs
CNVs
SNV + CNV compound heterozygotes
SVs
mtDNA variants
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.
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