[genome-announce] Developmental Disorders Gene2Phenotype (DDG2P) for hg38 and hg19
Jairo Navarro Gonzalez
We are pleased to announce the release of the Developmental Disorders Genotype-to-Phenotype (DDG2P) track for hg19 and hg38. The DDG2P track displays genes associated with severe developmental disorders. The track can be used to filter genomic sequencing data of people with genetic disorders to identify likely causative variants and accelerate diagnosis.
Items in this track are colored according to the likelihood that the gene-disease association is true:
- Green - Definitive
- Blue - Strong
- Orange - Moderate
- Red - Limited
- Gray - Refuted
Each mouseover tooltip provides the following information:
- G2P ID: Unique identifier assigned by the Gene2Phenotype (G2P) database.
- Number of PubMed IDs: Count of 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).
- Variant Consequence: Predicted effect each allele of a variant has on a transcript.
- Disease Name: Name of the disease associated with the variant.
- Date of Last Review: Most recent date the entry was manually reviewed.
We would like to thank the G2P project for making this data publicly available. We would also like to thank Jaidan Jenkins-Kiefer for the creation and release of the Genome Browser tracks.
Jairo Navarro
UCSC Genome Browser
UC Santa Cruz Genomics Institute
Revealing life’s code.
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