{"enrichment":{"faq":[{"a":"Gnomad is a skill that accesses the Genome Aggregation Database to retrieve allele frequencies, constraint metrics, and loss-of-function annotations across diverse populations. It helps assess variant rarity, filter benign variants by ACMG criteria, and identify genes intolerant of functional disruption through pLI and LOEUF scores.","q":"What is Gnomad?"},{"a":"Gnomad enables you to query allele frequencies across diverse populations, retrieve constraint metrics for genes, access loss-of-function annotations, assess variant rarity for clinical interpretation, filter benign variants using ACMG criteria, and identify genes with high intolerance to functional disruption via pLI and LOEUF scoring.","q":"What are Gnomad's main capabilities and features?"},{"a":"Gnomad allows you to input genetic variants and retrieve comprehensive population frequency data, constraint information, and functional impact predictions. Use these metrics to evaluate variant pathogenicity, determine population prevalence, and assess whether genes are sensitive to loss-of-function mutations for your genomic research or clinical assessment.","q":"How to use Gnomad for variant analysis?"},{"a":"Gnomad documentation covers accessing the Genome Aggregation Database, querying allele frequencies and constraint metrics, interpreting loss-of-function annotations, and applying ACMG filtering criteria. Refer to the documentation for detailed guidance on configuration, query syntax, and best practices for variant interpretation workflows.","q":"What is Gnomad documentation available for setup?"},{"a":"Yes, Gnomad identifies genes intolerant of functional disruption through pLI (probability of loss-of-function intolerance) and LOEUF (loss-of-function observed/expected upper bound fraction) scores. These metrics help prioritize genes where mutations are likely to cause disease and filter out genes where loss-of-function variants are tolerated.","q":"Can Gnomad help identify genes intolerant of disruption?"},{"a":"Gnomad supports filtering benign variants using ACMG (American College of Medical Genetics) criteria by leveraging allele frequency thresholds and population diversity data. This enables you to classify variants as benign based on their prevalence across diverse populations, streamlining clinical variant interpretation workflows.","q":"How does Gnomad filter variants by ACMG criteria?"}],"shadow_tags":["delphine-published","unsupported-agents","skill-exploration","agent-integration","capability-discovery"],"summary_rewrite":"Gnomad accesses the Genome Aggregation Database to retrieve allele frequencies, constraint metrics, and loss-of-function annotations across diverse populations. Use it to assess variant rarity, filter benign variants by ACMG criteria, and identify genes intolerant of functional disruption through pLI and LOEUF scores."},"gist":{"api_url":"https://skillfed.io/api/skills/Delphine-L/claude_global/gnomad.json","as_of":"2026-05-14","description":"Gnomad queries the Genome Aggregation Database via GraphQL to retrieve population allele frequencies and gene. npx skillfed install Delphine-L/claude_global/gnomad","install":{"manual":["git clone https://github.com/Delphine-L/claude_global","cp -r claude_global ~/.claude/skills/gnomad"],"primary":"npx skillfed install Delphine-L/claude_global/gnomad","version":"c2109b10"},"kind":"skill","mirror_url":"https://skillfed.io/Delphine-L/claude_global/gnomad.md","similar":[{"id":"beita6969/ScienceClaw/gnomad-database","name":"gnomad-database","publisher":"beita6969/ScienceClaw","url":"https://skillfed.io/beita6969/ScienceClaw/gnomad-database"},{"id":"mims-harvard/ToolUniverse/tooluniverse-population-genetics","name":"tooluniverse-population-genetics","publisher":"mims-harvard/ToolUniverse","url":"https://skillfed.io/mims-harvard/ToolUniverse/tooluniverse-population-genetics"},{"id":"mims-harvard/ToolUniverse/tooluniverse-population-genetics-1000genomes","name":"tooluniverse-population-genetics-1000genomes","publisher":"mims-harvard/ToolUniverse","url":"https://skillfed.io/mims-harvard/ToolUniverse/tooluniverse-population-genetics-1000genomes"},{"id":"K-Dense-AI/scientific-agent-skills/onekgpd","name":"onekgpd","publisher":"K-Dense-AI/scientific-agent-skills","url":"https://skillfed.io/K-Dense-AI/scientific-agent-skills/onekgpd"},{"id":"mims-harvard/ToolUniverse/tooluniverse-variant-functional-annotation","name":"tooluniverse-variant-functional-annotation","publisher":"mims-harvard/ToolUniverse","url":"https://skillfed.io/mims-harvard/ToolUniverse/tooluniverse-variant-functional-annotation"}],"title":"Gnomad by Delphine-L: Find and learn about the Gnomad skill \u2014 SkillFed","use":{"when":["Gnomad enables you to query allele frequencies across diverse populations, retrieve constraint metrics for genes.","Gnomad allows you to input genetic variants and retrieve comprehensive population frequency data, constraint information."]},"what":{"lead":"Gnomad queries the Genome Aggregation Database via GraphQL to retrieve population allele frequencies and gene constraint scores for variant interpretation.","rest":"Gnomad accesses the Genome Aggregation Database to retrieve allele frequencies, constraint metrics, and loss-of-function annotations across diverse populations. Use it to assess variant rarity, filter benign variants by ACMG criteria, and identify genes intolerant of functional disruption through pLI and LOEUF scores."}},"id":"Delphine-L/claude_global/gnomad","install":{"mode":"external","repo":"https://github.com/Delphine-L/claude_global"},"links":{"html":"https://skillfed.io/Delphine-L/claude_global/gnomad","md":"https://skillfed.io/Delphine-L/claude_global/gnomad.md","repo":"https://github.com/Delphine-L/claude_global"},"meta":{"agents_supported":[],"first_seen":"2026-07-28","forks":2,"language":"Shell","last_updated":"2026-05-14","license":null,"name":"Gnomad","publisher":"Delphine-L","stars":17},"relations":{"similar":[{"id":"LeonChaoX/qinyan-academic-skills/gnomad-database"},{"id":"beita6969/ScienceClaw/gnomad-database"},{"id":"jaechang-hits/SciAgent-Skills/gnomad-database"},{"id":"google-deepmind/science-skills/gnomad_database"},{"id":"mims-harvard/ToolUniverse/tooluniverse-acmg-variant-classification"},{"id":"mims-harvard/ToolUniverse/tooluniverse-population-genetics"},{"id":"mims-harvard/ToolUniverse/tooluniverse-population-genetics-1000genomes"},{"id":"mims-harvard/ToolUniverse/tooluniverse-functional-genomics-screens"},{"id":"K-Dense-AI/scientific-agent-skills/onekgpd"},{"id":"mims-harvard/ToolUniverse/tooluniverse-variant-functional-annotation"}]},"slug":{"owner":"Delphine-L","repo":"claude_global","skill":"gnomad"},"version":"c2109b10"}