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Variant data input

Shilpa Nadimpalli Kobren edited this page Feb 8, 2024 · 12 revisions

Our RaMeDiES statistical tools require tab-delimited files with the following specific columns.

The genome-wide SNV/indel variants we use in our work (and have seen across cohorts) are in Variant Calling Format (VCF). These files are easily parseable and formatted according to well-documented specifications, and many tools exist for rapidly querying and filtering VCF files.

that we generate from jointly-called trios VCFs