Resources

DECIPHER

DECIPHER is a free tool used by the clinical community to share and compare phenotypic and genotypic data.

deciphergenomics.org

G2P

The genotype-to-phenotype (G2P) database provides detailed information on which particular genotypes lead to which disease phenotypes. It is a free, publicly-accessible online system designed to facilitate the development, validation, curation and distribution of large-scale, evidence-based datasets for use in diagnostic variant filtering.

ebi.ac.uk/gene2phenotype

Transcript Archive

The goal of Tark is to create a free archive of all transcript sequences (including MANE) from Ensembl, RefSeq and other sources, including historical gene sets.

tark.ensembl.org

DDD

The aim of the DDD study is to advance clinical genetic practice for children with developmental disorders by the systematic application of the latest microarray and sequencing methods while addressing the new ethical challenges raised.

ddduk.org

Ensembl VEP

The Ensembl Variant Effect Predictor is a free, powerful toolset for variant annotation and prioritisation.

ensembl.org/info/docs/tools/vep

GenCC

The Gene Curation Coalition brings together groups engaged in the evaluation of gene-disease validity with a willingness to share data publicly, to develop consistent terminology for gene curation activities and to facilitate the consistent assessment of genes that have been reported in association with disease.

https://thegencc.org/

Long-read brain RNAseq coverage visualisation

This app visualises the coverage per basepair in the long-read RNA-seq frontal cortex transcripts for each protein-coding gene.

chundruvk.shinyapps.io/LRBrainCoverage/

Atlas of Cardiac Genetic Variation

The Atlas of Cardiac Genetic Variation utilises two resources of genetic data to clarify the genetics of cardiomyopathies and inform clinical decision making.