Results for “gnomad”

56 skills

Annotates VCF variants using Ensembl VEP, ClinVar, and gnomAD, ranks them by predicted impact, and generates a reproducible report.

Gnomad Database

Query gnomAD for population allele frequencies, constraint metrics, and loss-of-function intolerance. Use when interpreting variants, filtering common alleles, or prioritizing genes in rare disease workflows.

Alterlab Gnomad

Query gnomAD (Genome Aggregation Database) for population allele frequencies and gene constraint scores (pLI, LOEUF) reflecting loss-of-function intolerance. Use when checking how common a variant is across populations, filtering rare-disease candidate variants, assessing variant pathogenicity, or identifying loss-of-function intolerant genes. Part of the AlterLab Academic Skills suite.

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Query the 1000 Genomes Project dataset at the individual participant level to find variants, carriers, and relatedness information.

30.2k · bundle

Queries the 1000 Genomes Project dataset (3,202 whole-genome-sequenced individuals, GRCh38) at the level of individual participants, returning variants, carriers, and relatedness with allele frequencies and annotations.

Validates inputs, generates samplesheets and launch scripts, and optionally executes nf-core/pacsomatic matched tumor-normal workflows from BAM files, supporting local runs and scheduler submission (LSF/Slurm/PBS/SGE).

30.2k · bundle

Bmad Create Architecture

DEPRECATED — consolidated into bmad-architecture create intent - this skill will be removed in v7 in favor of `bmad-architecture`.

DEPRECATED — consolidated into bmad-prd update intent - this skill will be removed in v7 in favor of `bmad-prd`.

Search local documents, files, notes, and knowledge bases. Index directories, search with BM25/vector/hybrid, get AI answers with citations. Use when user wants to search files, find documents, query notes, look up information in local folders, index a directory, set up document search, build a knowledge base, needs RAG/semantic search, or wants to start a local web UI for their docs.

List available NVIDIA NIM models and their status

杰诺斯（少年漫）认知与表达框架（压缩蒸馏）：改造人认真、战损美学、师徒忠犬触发：一拳超人等。虚构

Submit an inference job to NVIDIA NIM and return a job ID

Generate knowledge schemas and ontologies from any input format. Extract semantic structures, relationships, and hierarchies. Output as Obsidian markdown with YAML frontmatter, wikilinks, tags, and mermaid diagrams, or export to semantic formats (JSON-LD, RDF, Neo4j Cypher, GraphQL). Supports fractal mode (strict hierarchical constraints) and free mode (flexible generation). Auto-activates for queries containing "schema", "ontology", "knowledge graph", "extract structure", or "generate outline".

Index local folders and search documents with BM25, vector, or hybrid queries, plus AI answers with citations and a web UI.

Nemo Guardrails

NVIDIA's runtime safety framework for LLM applications. Features jailbreak detection, input/output validation, fact-checking, hallucination detection, PII filtering, toxicity detection. Uses Colang 2.0 DSL for programmable rails. Production-ready, runs on T4 GPU.

Authors and updates customization overrides for installed BMad skills. Use when the user says 'customize bmad', 'override a skill', 'change agent behavior', or 'customize a workflow'.

Audits natural-language programming artifacts such as SKILL.md, AGENTS.md, CLAUDE.md, slash commands, plugin manifests, hooks, rules, and prompt files. Use when reviewing AI-agent repositories, checking manifest-vs-disk consistency, scoring skill or agent quality, adding NL artifact CI gates, or diagnosing vocabulary and version drift across Claude Code, Codex, Cursor, Gemini, and Antigravity-style projects.

lucassantana-dev

Skill Md Adoption

SKILL.md is an open specification released by Anthropic in 2025 that standardizes how tools discover and auto-invoke procedural knowledge (skills, patterns, guides, rules). Instead of each tool (Claude, Cursor, VSCode, CLI) maintaining isolated skill registries, SKILL.md enables a single skill to be published once and auto-invoked across any tool that speaks the spec.

Bmad Create Prd

DEPRECATED — consolidated into bmad-prd create intent - this skill will be removed in v7 in favor of `bmad-prd`.

Nemo Guardrails

NVIDIA's runtime safety framework for LLM applications. Features jailbreak detection, input/output validation, fact-checking, hallucination detection, PII filtering, toxicity detection. Uses Colang 2.0 DSL for programmable rails. Production-ready, runs on T4 GPU.

Nemotron Policy Generator

Generates custom safety policies for NVIDIA Nemotron content-safety guardrails, producing a Markdown policy, JSON taxonomy, and inference prompts from rough user input.

Dynamo Troubleshoot

Diagnose failed or unhealthy Dynamo deployments by collecting a read-only debug bundle, classifying failures, and providing step-by-step remediation guidance.

Build applications with Gemini API hosted models, including Gemini and Gemma 4, using multimodal content, function calling, structured outputs, and current SDKs for Python, JavaScript, Go, and Java.

Search local documents, files, notes, and knowledge bases. Index directories, search with BM25/vector/hybrid, get AI answers with citations. Use when user wants to search files, find documents, query notes, look up information in local folders, index a directory, set up document search, build a knowledge base, needs RAG/semantic search, or wants to start a local web UI for their docs.

This skill should be used when working with BMAD (BMad-CORE) v6-alpha projects. BMAD is a universal human-AI collaboration platform with specialized modules for software development (BMM), agent building (BMB), creative intelligence (CIS), and project management (BMD). Use this skill to understand agent workflows, command patterns, scale-adaptive methodology, and effective utilization of the four-phase development system.

Generate, visually edit, and export beautiful HTML/CSS presentation decks with agents using slides-grab (NomaDamas, MIT) — the open-source Claude Design alternative and best harness + editor + linter for slides in Claude Code / Codex. One routing-first skill across Plan (agent drafts an outline), Design (each slide is a self-contained slide-XX.html), Edit (a pure-JS browser editor where you drag a bbox over any region and ask the agent to rewrite just that area, or hand-tweak text/size/bold), and Export (capture-or-print PDF, per-slide PNG incl. Instagram 1:1 card-news, plus experimental/unstable PPTX and Figma-importable PPTX). Picks an install path (npm package + npx skills add, or clone), a deck workspace (--slides-dir, multi-deck decks/<name>/), one of 35 bundled design styles, and the supported asset flow (local ./assets/<file> only — image via god-tibo-imagen/codex/nano-banana, fetch-video via yt-dlp, tldraw .tldr→SVG), validating with slides-grab validate before any export.

Game Development Game Audio Engineer

Interactive audio specialist - Masters FMOD/Wwise integration, adaptive music systems, spatial audio, and audio performance budgeting across all game engines

Elite UX/UI & Advanced GSAP Motion Engineer. Enforces Python-driven true randomization for layout variance, strict AIDA page structure, wide editorial typography (bans 6-line wraps), gapless bento grids, strict GSAP ScrollTriggers (pinning, stacking, scrubbing), inline micro-images, and massive section spacing.

Expert game audio designer and implementer specializing in interactive sound design, adaptive music systems, spatial audio, and audio middleware integration. Brings deep knowledge of FMOD, Wwise, and native engine audio systems to create immersive sonic experiences that respond dynamically to gameplay. Use when "game audio, sound design, game music, FMOD, Wwise, spatial audio, 3D sound, audio middleware, game sfx, adaptive music, interactive audio, audio bus, game mixing, audio occlusion, reverb zones, audio pooling, sound manager, audio, sound, music, game-audio, fmod, wwise, spatial-audio, middleware, mixing, sound-design" mentioned.

Index local folders and search documents with BM25, vector, or hybrid queries, plus AI answers with citations and a web UI.

Turn raw ideas into one clear pre-planning concept artifact by choosing the right framing mode: problem framing, audience and value framing, concept shaping, game concept framing, or story packaging. Use when the user needs the next artifact before PRDs, sprint plans, launch execution, or game-production routing.

Sets up {module-name} module in a project. Use when the user requests to 'install {module-code} module', 'configure {module-name}', or 'setup {module-name}'.

Use this skill to query your Google NotebookLM notebooks directly from Claude Code for source-grounded, citation-backed answers from Gemini. Browser automation, library management, persistent auth. Drastically reduced hallucinations through document-only responses.

Golang Patterns

Idiomatic Go patterns, best practices, and conventions for building robust, efficient, and maintainable applications.

N coordinated agents on shared task list using Claude Code implicit agent teams

Planning With Files

Creates and maintains persistent markdown planning files that survive session resets by hooking into Claude Code's lifecycle.