gnomad-database SKILL.md skillA

gnomad-database from jaechang-hits/sciagent-skills is an agent skill: a SKILL.md folder an AI agent loads when a task calls for it.

Install it, pinned
mdr add jaechang-hits/sciagent-skills/gnomad-database@git:20260528.3e3f998

Pins git:20260528.3e3f998 in mdr.lock. Pin the fingerprint instead.

Audit grade
A, 17 of 17 checks passed
Kind
SKILL.md skill
Repository
jaechang-hits/sciagent-skills
Path
skills/genomics-bioinformatics/databases/gnomad-database/SKILL.md
Versions recorded
1
Latest version
git:20260528.3e3f998, committed May 28, 2026
Size
28,674 bytes
Repository stars
381
License
a license file GitHub does not identify

gnomAD v4 population variant frequencies via GraphQL API. Allele counts and frequencies stratified by ancestry (AFR, AMR, EAS, NFE, SAS, FIN, ASJ, MID), gene-level constraint (pLI, LOEUF, missense z), and coverage. Identify rare or constrained variants. For clinical pathogenicity use clinvar-database; for GWAS use gwas-database.

Collected from public GitHub. Every version is saved exactly as it was and never changes. Install it at an exact version with the mdr tool, and every file is checked before it reaches your agent. The main file is checked against the SHA-256 fingerprint recorded here, and the others against the fingerprints GitHub keeps for its source commit. The automatic checks below grade the latest version, and the same checks always give the same file the same grade.

What the file says

# gnomAD Database

## Overview

The Genome Aggregation Database (gnomAD) is a resource of aggregated exome and genome sequencing data from 730,000+ individuals. It provides population variant frequencies stratified by 9 ancestry groups, gene-level constraint scores (pLI, LOEUF), and read coverage information. Access is free via a GraphQL API at `https://gnomad.broadinstitute.org/api` — no authentication required, no official SDK.

## When to Use

- Checking whether a candidate variant is rare enough to be clinically relevant (AF < 0.1% in all populations)
- Retrieving allele frequencies stratified by ancestry group (AFR, AMR, EAS, NFE, SAS, FIN, ASJ, MID) for a variant
- Identifying all rare loss-of-function variants in a gene for burden testing or candidate prioritization
- Getting gene constraint metrics (pLI, LOEUF) to assess tolerance to loss-of-function variants
- Checking read depth coverage for a region to evaluate if low variant frequency reflects low sequencing coverage
- Filtering a VCF by population frequency — query gnomAD AF to discard common variants before clinical interpretation
…

Read the whole file at its exact version.

How to install

The exact contents, by fingerprint
mdr add jaechang-hits/sciagent-skills/gnomad-database@sha256:19b4abd8b1d6d408

The line at the top of this page pins the label git:20260528.3e3f998, which is what most people want. This one pins the sha256 fingerprint of the contents instead, so it survives a label being moved. Either way the exact version is written to mdr.lock, and mdr install downloads and checks those contents again, so it installs them exactly or stops with an error.

Badge

mdr badge

[![mdr](https://markdownregistry.com/badge/art_3rsnhzkwp3oblc5q.svg)](https://markdownregistry.com/a/art_3rsnhzkwp3oblc5q)

4 badge image fetches in 30 days. What the badge shows.

Versions

The registry has recorded 1 version of this file, committed on May 28, 2026.

versioncommittedcommitsizeaudit
git:20260528.3e3f998 latest2026-05-28 3e3f998 28,674 BA view

Audit of the latest version

A  17 of 17 checks passed. Fixed automatic checks with no AI involved, so the same checks give the same answer every run.
  • pass: Frontmatter block present
  • pass: Frontmatter declares a name
  • pass: Frontmatter declares a description
  • pass: Size between 200 bytes and 200 KB (28674 bytes)
  • pass: No zero-width or bidi control characters
  • pass: No instruction hidden inside an HTML comment
  • pass: No link to an exfiltration or paste host
  • pass: No credential-shaped string
  • pass: No instruction to send local credentials anywhere
  • pass: No text hidden with inline styles
  • pass: No prompt-injection phrasing
  • pass: No curl or wget piped into a shell
  • pass: No recursive delete of root, home or parent
  • pass: No instruction to read or print local credentials
  • pass: No base64 blob over 200 characters
  • pass: No link to a raw IP address
  • pass: No script tag

Source

GitHub

jaechang-hits/sciagent-skills · 381 stars · license a license file GitHub does not identify · pushed 2026-10-16 · branch main

API

GET https://markdownregistry.com/api/v1/artifacts/art_3rsnhzkwp3oblc5q
GET https://markdownregistry.com/api/v1/resolve?ref=jaechang-hits/sciagent-skills/gnomad-database
GET https://markdownregistry.com/api/v1/blob/19b4abd8b1d6d408dbcde7f60aa87ed18af28bb724f44189d24aa5df0a9baaee

Your AI assistant does the legwork. You hear about the deals worth your word. Hand yours the standing instructions at modelranch.com and it joins the network that reads files like this one.

Guides: the SKILL.md format and its required fields · what to check before you install a skill · how to pin a skill to an exact version · where to find agent skills · keeping a team on the same skills · which agent file does what.

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Every file in jaechang-hits/sciagent-skills

Other files named gnomad-database

gnomad-database SKILL.md skill
marielynneblock/arcanum-artifex · skills/scientific/gnomad-database/SKILL.md · Query gnomAD (Genome Aggregation Database) for population allele frequencies, variant constraint scores (pLI, LOEUF)…
git:20260710.0115f49 · audit A · 4 stars

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