gnomad-variants skillA
gnomad-variants is agent-read markdown (skill) from ammawla/encode-toolkit: Query gnomAD (Genome Aggregation Database) for population allele frequencies, gene constraint scores, and variant annotations to interpret ENCODE regulatory variants. Use when the user needs allele frequencies for variants in ENCODE regulatory elements, wants to assess gene constraint (pLI, LOEUF) for ENCODE target genes, needs population-specific frequencies for GWAS variants overlapping cCREs, wants to filter variants by rarity before functional annotation, or is interpreting ENCODE CRISPR/MPR.
Indexed from public GitHub and served as immutable, content-addressed versions. Install it pinned to an exact SHA-256 with the mdr CLI, and every file is verified against the hash recorded here before it reaches your agent. The deterministic audit below grades the latest version, and the same file always earns the same grade.
What the file says
# Query gnomAD for Population Variant Data ## When to Use - User wants to check population allele frequencies for variants in ENCODE regulatory regions - User asks about "gnomAD", "allele frequency", "population genetics", "gene constraint", or "variant frequency" - User needs to filter regulatory variants by rarity (common vs rare) using population data - User wants to assess gene constraint (pLI, LOEUF) for targets identified from ENCODE ChIP-seq - Example queries: "check gnomAD frequency for variants in my peaks", "is this regulatory variant rare?", "what's the constraint score for CTCF?" Annotate ENCODE-identified regulatory variants with population allele frequencies and gene constraint scores from the Genome Aggregation Database. ## Scientific Rationale **The question**: "How common is this variant in the population, and how constrained is the gene it regulates?" …
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How to install
mdr add ammawla/encode-toolkit/gnomad-variants@git:20260920.6050003mdr add ammawla/encode-toolkit/gnomad-variants@sha256:cee9158a457f52caPin to a label to follow the author's releases, or to a sha256 to freeze the exact bytes forever. Either way the resolved hash is written to mdr.lock, and mdr install reproduces it on any machine.
[](https://markdownregistry.com/a/art_iirl7dakeyucp6wt)
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Versions
| version | committed | commit | size | audit | |
|---|---|---|---|---|---|
| git:20260920.6050003 latest | 2026-09-20 | 6050003 | 17,198 B | A | view · diff |
| git:20260920.992a807 | 2026-09-20 | 992a807 | 16,631 B | A | view · diff |
| git:20260308.ca46af5 | 2026-03-08 | ca46af5 | 16,641 B | A | view |
Audit of the latest version
- pass: Frontmatter block present
- pass: Frontmatter declares a name
- pass: Frontmatter declares a description
- pass: Size between 200 bytes and 200 KB (17198 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
ammawla/encode-toolkit · 20 stars · license AGPL-3.0 · pushed 2026-09-21 · branch main
API
GET https://markdownregistry.com/api/v1/artifacts/art_iirl7dakeyucp6wt GET https://markdownregistry.com/api/v1/resolve?ref=ammawla/encode-toolkit/gnomad-variants GET https://markdownregistry.com/api/v1/blob/cee9158a457f52ca41b3c5310ba550e4d43a155387a2fa83d044b1de5b318671
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