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bio-causal-genomics-effector-gene-prioritization skillA

bio-causal-genomics-effector-gene-prioritization is agent-read markdown (skill) from pku-yuangroup/openai4s: Maps GWAS-implicated loci to candidate effector (causal) genes by integrating variant-to-gene (V2G) features via Open Targets L2G (Mountjoy 2021), MAGMA gene-based association (de Leeuw 2015), FUMA SNP2GENE, cS2G combined SNP-to-gene scores (Gazal 2022), Polygenic Priority Scores (PoPS, Weeks 2023), FLAMES, INQUISIT, DEPICT, and enhancer-gene predictors (ABC, ENCODE-rE2G). Use when narrowing a GWAS lead locus to a candidate causal gene, picking between proximity, eQTL-based, and similarity-based.

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What the file says

## Version Compatibility

Reference examples tested with: MAGMA 1.10+ (cncr.nl/research/magma), FUMA web platform v1.6+ (fuma.ctglab.nl), Open Targets Genetics API (REST + GraphQL, June 2024 release), PoPS (head of `FinucaneLab/pops`, 2024), cS2G pre-computed scores (Zenodo record 7754032, Gazal 2022), ABC-Enhancer-Gene-Prediction 0.2.2+, ENCODE-rE2G v1.0+ (Gschwind 2023 preprint), DEPICT v1 rel194, INQUISIT (Fachal 2020 supplementary), Python 3.9-3.11, R 4.3+, PLINK 1.9 + PLINK 2.0.

Before using code patterns, verify installed versions match. If versions differ:
- CLI: `magma --help` to confirm gene-window, gene-annot, and gene-set flag names
- Python: `pip show gentropy`; introspect endpoints at `api.platform.opentargets.org/api/v4/graphql`
- R: `packageVersion('coloc')` etc. for upstream evidence integration

If a script throws an error about an argument that has moved (e.g. an Open Targets endpoint renamed during a release) or a model file schema change, introspect the installed tool and adapt rather than retrying. Open Targets Genetics deprecated the standalone Genetics Portal in 2024 in favour of the integrated platform; verify endpoint URLs at the time of use.
…

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How to install

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Source

GitHub

pku-yuangroup/openai4s · 586 stars · license MIT · pushed 2026-09-23 · branch main

API

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GET https://markdownregistry.com/api/v1/blob/6f3d1f3833aff4f266e3da2cb46410166ebf2a0d9357858eca06931a5b76c7ec

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