DECIPHER: database for the interpretation of phenotype-linked plausibly pathogenic sequence and copy-number variation

被引：159

作者：

Bragin, Eugene ^{[1
]}

Chatzimichali, Eleni A. ^{[1
]}

Wright, Caroline F. ^{[1
]}

Hurles, Matthew E. ^{[1
]}

Firth, Helen V. ^{[1
,2
]}

Bevan, A. Paul ^{[1
]}

Swaminathan, G. Jawahar ^{[1
]}

机构：

[1] Wellcome Trust Sanger Inst, Cambridge CB10 1SD, England

[2] Univ Cambridge, Addenbrookes Hosp, Dept Med Genet, Cambridge CB2 2QQ, England

来源：

NUCLEIC ACIDS RESEARCH | 2014年 / 42卷 / D1期

基金：

英国惠康基金;

关键词：

DEVELOPMENTAL DELAY; MICRODELETION SYNDROME; ARRAY-CGH; VARIANTS; DYSMORPHOLOGY; DELETIONS;

D O I：

10.1093/nar/gkt937

中图分类号：

Q5 [生物化学]; Q7 [分子生物学];

学科分类号：

071010 ; 081704 ;

摘要：

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].

引用

页码：D993 / D1000

页数：8

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