Article

DECIPHER: Supporting the interpretation and sharing of rare disease phenotype-linked variant data to advance diagnosis and research

2021-10-10

Abstract excerpt

DECIPHER (https://www.deciphergenomics.org) is a free web platform for sharing anonymised phenotype-linked variant data from rare disease patients. Its dynamic interpretation interfaces contextualise genomic and phenotypic data to enable more informed variant interpretation, incorporating international standards for variant classification. DECIPHER supports almost all types of germline and mosaic variation in the...

Topics

Open a Topic to create a Post that cites this publication.

Identifiers and source

Literature Corpus work: b6fcacd8-ca80-5f49-b46e-3a4de8c43e8d
DOI: 10.22541/au.163389792.27006605/v1

Open publication

Related research

Semantic proximity does not establish scientific evidence.

Click a neighbor to travelStep 1 · 12 closest

DECIPHER: Supporting the interpretation and sharing of rare disease phenotype-linked variant data to advance diagnosis and researchDOI 10.22541/au.163389792.27006605/v1Read

DECIPHER: Supporting the interpretation and sharing of rare disease phenotype-linked variant data to advance diagnosis and research.Semantic proximity Read

Genomic reanalysis of a pan-European rare-disease resource yields new diagnosesSemantic proximity Read

VariantMatcher: Phenotypic and Genomic Data Sharing to Facilitate Variant Classification and Disease Gene Discovery.Semantic proximity Read

OARD: Open annotations for rare diseases and their phenotypes based on real-world data.Semantic proximity Read

PAVS: A Standardized Database of Phenotype-Associated Variants from Saudi Arabian Rare Disease PatientsSemantic proximity Read

Facilitating collaboration in rare genetic disorders through effective matchmaking in DECIPHER.Semantic proximity Read

Databases of genomic variation and phenotypes: existing resources and future needs.Semantic proximity Read

DECIPHER: Improving Genetic Diagnosis Through Dynamic Integration of Genomic and Clinical Data.Semantic proximity Read

The RD-Connect Genome-Phenome Analysis Platform: Accelerating diagnosis, research, and gene discovery for rare diseases.Semantic proximity Read

PhenoDB, GeneMatcher and VariantMatcher, tools for analysis and sharing of sequence data.Semantic proximity Read

Phenotype-driven approaches to enhance variant prioritization and diagnosis of rare disease.Semantic proximity Read

An optimized variant prioritization process for rare disease diagnostics: recommendations for Exomiser and GenomiserSemantic proximity Read