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  • 0 (xsd:integer)
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  • We defined deleterious variants as those variants that fulfil any of the following three criteria: 1) all the variants except the synonymous variants predicted to be deleterious by at least 5 out of 8 missense prediction scores, CADD score >4.5, or 2 out of 3 conservation scores (GERP>3, PhyloP>0.95, SiPHy>10) show high conservation; 2) variants annotated as “splicing”, "stop gain" or "stop loss"; 3) any insertion or deletion.
rdf:type