DECIPHER

DECIPHER provides a database (Database of Chromosomal Imbalance and Phenotype in Humans using Ensembl Resources) for deposition, analysis, and sharing of plausibly pathogenic sequence and copy-number variants linked to well-phenotyped patients to support clinical interpretation and research of rare genetic disorders.

Key Features:

• Secure Data Deposition: Supports secure submission and controlled sharing of genomic data with anonymization and consent, including approximately 18,000 patients who consented to public sharing and ~25,000 privately shared records.
• Variant Analysis Tools: Provides tools to analyze sequence and copy-number variants and to facilitate genotype–phenotype comparisons for clinical interpretation.
• Matchmaking Capabilities: Identifies patients with similar genotype–phenotype profiles to aid diagnosis of previously undiagnosed syndromes and discovery of new disease genes.
• Extensive Database: Aggregates contributions from roughly 250 registered centers encompassing over 51,500 patient records.
• Global Collaboration: Enables data exchange among clinical centers and researchers to support collaborative rare-disease investigations and consortia activity.
• Research Contributions: Has supported the publication of over 700 peer-reviewed scientific articles.

Scientific Applications:

• Clinical Interpretation: Assisting clinicians in interpreting sequence and copy-number variation data to diagnose rare genetic disorders.
• Research and Discovery: Supporting identification of novel genotype–phenotype associations and the discovery of new syndromes and disease genes.
• Data Sharing and Collaboration: Facilitating controlled sharing and comparative analyses of genomic and phenotypic data across a global community of clinicians and researchers.

Methodology:

Employs advanced bioinformatics tools to analyze genomic variants by integrating sequence and copy-number variation data with phenotypic information and by comparing new patient data with existing database entries to identify genotype–phenotype correlations.