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scientific-gnomad-variants

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Fetch gnomAD frequencies and constraint scores.

Data & Analytics#transcript#graphql#bioinformatics#constraint#region#frequency#gnomad
Authornahisaho
Version1.0.0
Installs0

System Documentation

What problem does it solve?

gnomADデータの集団頻度と遺伝子制約スコアをプログラム的に取得・比較する手段を提供します。

Core Features & Use Cases

  • 集団頻度の取得: exome/genome の AF・AC・AN を取得
  • 遺伝子制約スコア: pLI、LOEUF などの指標を取得
  • リージョン検索: 指定区間のバリアントを列挙
  • トランスクリプトレベル情報: トランスクリプト別の影響を取得
  • Use Case: 研究・臨床解釈のための複数遺伝子・領域の比較や統合

Quick Start

Query a gene or variant in gnomAD to retrieve population frequencies and constraint scores.

Dependency Matrix

Required Modules

None required

Components

Standard package

💻 Claude Code Installation

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Please help me install this Skill:
Name: scientific-gnomad-variants
Download link: https://github.com/nahisaho/satori/archive/main.zip#scientific-gnomad-variants

Please download this .zip file, extract it, and install it in the .claude/skills/ directory.
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