目录

Var-Agg

A simple helper for aggregating multi-sample VCF files into “site VCF” files, e.g., for aggregating the thousand genomes per-sample genotype files or in-house cohorts.

Note that the frequencies are computed for founders only (both mother and father are “0” in the pedigree file). Counts including non-founders are in the implicit “ALL” cohort.

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变异结果聚合工具,用于整合多个样本或多个来源的变异注释/统计信息。

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