Abstract
The DECIPHER database (https://decipher.sanger.ac.uk/) is an accessible online repository of genetic variation with associated phenotypes that facilitates the identification and interpretation of pathogenic genetic variation in patients with rare disorders. Contributing to DECIPHER is an international consortium of >200 academic clinical centres of genetic medicine and ≥1600 clinical geneticists and diagnostic laboratory scientists. Information integrated from a variety of bioinformatics resources, coupled with visualization tools, provides a comprehensive set of tools to identify other patients with similar genotype–phenotype characteristics and highlights potentially pathogenic genes. In a significant development, we have extended DECIPHER from a database of just copy-number variants to allow upload, annotation and analysis of sequence variants such as single nucleotide variants (SNVs) and InDels. Other notable developments in DECIPHER include a purpose-built, customizable and interactive genome browser to aid combined visualization and interpretation of sequence and copy-number variation against informative datasets of pathogenic and population variation. We have also introduced several new features to our deposition and analysis interface. This article provides an update to the DECIPHER database, an earlier instance of which has been described elsewhere [Swaminathan et al. (2012) DECIPHER: web-based, community resource for clinical interpretation of rare variants in developmental disorders. Hum. Mol. Genet., 21, R37–R44].
Highlights
Genetic diseases are caused by abnormalities in the genome of an individual that range from small mutations in critical genes, to larger structural changes that include deletions, duplications, translocations or inversions in regions of chromosomes and affect one or more genes
At the time of writing, DECIPHER contains genotype-linked phenotype data for >21 000 patients deposited from academic clinical genetic centres from 30 countries
To facilitate the interpretation of deposited sequence variants in DECIPHER, we have extended the DECIPHER patient variant pages (Figure 2A) to include derived information from both copy-number variants (CNVs) and sequence variation
Summary
TO DECIPHERGenetic diseases are caused by abnormalities in the genome of an individual that range from small mutations in critical genes, to larger structural changes that include deletions, duplications, translocations or inversions in regions of chromosomes (or combinations of the above) and affect one or more genes. The DECIPHER project (DECIPHER–https:// decipher.sanger.ac.uk/) was instigated in 2004 to initiate an international collaborative effort to collect and catalogue genotype–phenotype associations, aid the discovery of new syndromes, help in the identification of patients sharing common genotype variants and phenotypes, and highlight common copy-number variants (CNVs) [1,7]. At the time of writing, DECIPHER contains genotype-linked phenotype data for >21 000 patients deposited from academic clinical genetic centres from 30 countries.
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