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gnomad-browser-lite
gnomad-browser-lite には broadinstitute から収集した 4 個の skills があり、リポジトリ単位の職業カバレッジとサイト内 skill 詳細ページを表示します。
このリポジトリの skills
Scaffold a new gbl qc validity check from a plain-language description — a CheckState variant, registry entry, and unit-test fixture — so a domain expert can add a check by reviewing a diff instead of writing Rust from scratch.
Evaluate a gene's tolerance to loss-of-function and missense variation using gnomAD constraint metrics.
Run federation validity checks on a sites-only submission and interpret the QC report. Use when verifying that a partner ran proper QC on data they submitted as AC/AN/nhomalt without sharing genotypes.
Guide through ACMG-style clinical variant interpretation using gnomAD frequency, constraint, pext, and in silico data.