83cc98681bb258a9eed116893ca85439c0df18f3 jnavarr5 Thu Oct 23 16:04:21 2025 -0700 Moving the DDG2P track into its own container, G2P, refs #36469 diff --git src/hg/makeDb/trackDb/human/g2p.html src/hg/makeDb/trackDb/human/g2p.html new file mode 100644 index 00000000000..0bef2a87aa3 --- /dev/null +++ src/hg/makeDb/trackDb/human/g2p.html @@ -0,0 +1,84 @@ +

Description

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+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. +

+ +

Display Conventions and Configuration

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

Green - Definitive
Blue - Strong
Orange - Moderate
Red - Limited
Gray - Refuted

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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.

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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. +

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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 +