991d6b875ab1bb832434ca3f939ff77de3d6d786 jnavarr5 Thu Nov 13 14:59:51 2025 -0800 Updating the track descripiton page since the g2p track isn't just about DDG2P, refs #36469 diff --git src/hg/makeDb/trackDb/human/g2p.html src/hg/makeDb/trackDb/human/g2p.html index 04825953af6..b7f0451b280 100644 --- src/hg/makeDb/trackDb/human/g2p.html +++ src/hg/makeDb/trackDb/human/g2p.html @@ -1,85 +1,88 @@

Description

-These tracks display genes associated with severe developmental disorders. The track can be used to -filter genomic sequencing data from individuals with genetic disorders to identify likely causative -variants and accelerate diagnosis. +This track displays detailed, evidence-based gene-disease models, curated from the literature by +experts. The track can be used to filter genomic sequencing data from individuals with genetic +disorders to identify likely causative variants and accelerate diagnosis. More information about +the G2P project can be found on the +Gene2Phenotype +website.

Display Conventions and Configuration

For each track, items are colored according to the likelihood that the gene-disease association is true:

Dark-green - Definitive
Green - Strong
Light-green - Moderate
Pink - Limited
Red - Disputed
Dark-red - Refuted

Each mouseover tooltip provides the following information:

G2P ID: Unique identifier assigned by the Gene2Phenotype (G2P) database.
Variant Consequence: Predicted effect each allele of a variant has on a transcript.
Disease Name: Name of the disease associated with the variant.
PubMed IDs: Publications associated with the variant.
Molecular Mechanism: Description of the molecular processes and interactions causing pathogenic effects.
Allelic Requirements: Number of alleles required at a locus to produce a pathogenic phenotype (e.g., monoallelic, biallelic).
Date of Last Review: Most recent date the entry was manually reviewed.

Method

Expert-curated gene disease models released by the Gene2Phenotype project were imported and processed to create a BED-based track annotating genomic regions reported to be associated with disease in the literature. Standard genome assembly coordinates and gene annotations were used to map entries to the browser.

Contact

For more information on the Gene2Phenotype project, please contact g2p-help@ebi. ac. uk

Data Access

Source data for these tracks are available directly from Gene2Phenotype.

References

Thormann A, Halachev M, McLaren W, Moore DJ, Svinti V, Campbell A, Kerr SM, Tischkowitz M, Hunt SE, Dunlop MG et al. Flexible and scalable diagnostic filtering of genomic variants using G2P with Ensembl VEP. Nat Commun. 2019 May 30;10(1):2373. DOI: 10.1038/s41467-019-10016-3; PMID: 31147538; PMC: PMC6542828

Yates TM, Ansari M, Thompson L, Hunt SE, Uhalte EC, Hobson RJ, Marsh JA, Wright CF, Firth HV. Curating genomic disease-gene relationships with Gene2Phenotype (G2P). Genome Med. 2024 Nov 6;16(1):127. DOI: 10.1186/s13073-024-01398-1; PMID: 39506859; PMC: PMC11539801