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Data · dataset · 2026

Analysis code for "Germline causality is not tumour prognosis: dissecting the genetic and prognostic architecture of colorectal cancer in the COADREAD cohort"

Listed in ScienceDB

This dataset contains the complete analysis code underlying the manuscript "Germline causality is not tumour prognosis: dissecting the genetic and prognostic architecture of colorectal cancer in the COADREAD cohort".

Description

The study separates two axes that are routinely fused into a single score: the germline causal axis (whether a gene influences the risk of developing colorectal cancer) and the tumour prognostic axis (whether the expression of that gene in the tumour predicts patient outcome).

A 267-gene SNP-related gene set was built by mapping 84 independent risk loci to genes; this set constrained the development of an eight-gene prognostic signature, which was validated across seven external cohorts. A cis-expression quantitative trait locus Mendelian randomisation scan with colocalisation, HEIDI gating, robustness testing (outlier instruments, multivariable Mendelian randomisation, signal-level colocalisation) and druggability assessment was then performed.

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The archive contains 60 analysis scripts covering preprocessing, genome-wide association study quality control, SNP-to-gene mapping, prognostic modelling, external validation, Mendelian randomisation, colocalisation and figure generation; download helpers for public genome-wide association summary statistics, expression quantitative trait locus resources and Gene Expression Omnibus series; and query scripts for Open Targets, DGIdb, the Human Protein Atlas and the protein quantitative trait locus catalogue.

The code is written in R 4.5.3 with a small amount of Python 3.13 for download and query utilities. No third-party dataset is redistributed: all inputs are publicly available and must be obtained from their original sources, as listed in the accompanying README. The analyses used only publicly available summary-level statistics and previously published de-identified data, so ethical approval and informed consent were not required.

A single parameter must be edited before running the code: the project root constant BASE at the top of analysis_code/00_core_functions.R. All other paths are derived from it. The random seed is 20260908.

Links

Where it is published

Catalogue records · 1

Topics

Inferred from text
Cancer 75% · Oncology and carcinogenesis 74%
Provenance · 1 source records, 12 field assertions
SourceKeyLast seenRaw
ScienceDB10.57760/sciencedb.0140t12 d agoJSON v1
FieldAssertionExtractorEvidence
concepts[disease].local:disease:cancerenrichment · scidb cnkeyword-concept-rules@1.0.0title+description (75%)
concepts[field].anzsrc:group:3211enrichment · scidb cntaxonomy-embedding@1.0.0title+keywords+description (74%)
concepts[field].local:field:earth-environmentalmapping · scidb cnconnector:scidb_cn@1.0.0
concepts[field].local:field:engineeringmapping · scidb cnconnector:scidb_cn@1.0.0
concepts[field].local:field:humanitiesmapping · scidb cnconnector:scidb_cn@1.0.0
concepts[field].local:field:life-sciencesmapping · scidb cnconnector:scidb_cn@1.0.0
concepts[field].local:field:medicine-healthmapping · scidb cnconnector:scidb_cn@1.0.0
concepts[field].local:field:social-sciencemapping · scidb cnconnector:scidb_cn@1.0.0
descriptionsource · scidb cnconnector:scidb_cn@1.0.0/metadata/dc/description
license_textsource · scidb cnconnector:scidb_cn@1.0.0
publication_datesource · scidb cnconnector:scidb_cn@1.0.0
titlesource · scidb cnconnector:scidb_cn@1.0.0/metadata/dc/title