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Genome Interpretation

Resources for genome interpretation and annotation

The team provides robust and reliable reference resources for consistent genome interpretation and annotation. These tools and databases are fundamental for progress in biology, from basic research to translational genomics in the clinic.

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The Genome Interpretation team focuses on providing fundamental reference resources that underpin genomic research. Our areas of expertise are: adding value through manual annotation of the transcriptome and associated data; managing large volumes of variation data; and building software to interpret genomic variation.

The Human Genome Project generated a reference sequence that was a significant milestone in genomics, but only one in a series of steps toward the goal of personalised medical treatment. To realise the potential of genomics in this context, what is needed is an understanding of transcription and translation, alongside the ability to interpret the impact of genomic variation on phenotype and disease. Open access to catalogues of existing knowledge of genomic and variation annotation, and to tools for interpretation are fundamental for progress in biology, from basic research to translational genomics in the clinic. We build these and are globally recognised as world leaders via the free resources we provide, listed below.

Resources

Ensembl (variation resources)

One of the largest catalogues of annotated transcript, variant, phenotype, trait and disease data for vertebrate species.

www.ensembl.org

Tark

An archive of all current and historic Ensembl/GENCODE and RefSeq transcripts in human for comparing and tracking differences.

http://tark.ensembl.org/

Gene2Phenotype (G2P)

G2P is a framework for manually curated gene-to-phenotype or disease associations, stored in a structured manner for high throughput access.

https://www.ebi.ac.uk/gene2phenotype/

GENCODE

Gene identification and annotation of the human and mouse genomes.

https://www.gencodegenes.org/

Data

MANE

Matched Annotation from the NCBI and EMBL-EBI (MANE) Identical pairs of transcripts annotated by both GENCODE and RefSeq.

http://tark.ensembl.org/web/mane_project/

Tools

Ensembl’s Variant Effect Predictor

Ensembl’s Variant Effect Predictor (VEP) is a software tool for in silico annotation of variants.

www.ensembl.org/vep

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