The penalty factor assignment rule.
收藏Figshare2022-03-24 更新2026-04-28 收录
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We used the VEP-predicted consequence and ClinVar annotation to prioritize protein-truncating, protein-altering, and (likely) pathogenic variants by assigning lower penalty factor values. The penalty factor and the number of variants stratified by genetic variants (genotype or allelotype), predicted consequence, and ClinVar annotation is shown. (XLSX)
创建时间：
2022-03-24
