DECIPHER: database for the interpretation of phenotype-linked plausibly pathogenic sequence and copy-number variation-Reference-Cited by-同舟云学术

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

Published:2013-10-22 Issue:D1 Volume:42 Page:D993-D1000
ISSN:0305-1048
Container-title:Nucleic Acids Research
language:en
Short-container-title:Nucl. Acids Res.

Author:

Bragin Eugene,Chatzimichali Eleni A.,Wright Caroline F.,Hurles Matthew E.,Firth Helen V.,Bevan A. Paul,Swaminathan G. Jawahar

Publisher

Oxford University Press (OUP)

Subject

Genetics

Link

http://academic.oup.com/nar/article-pdf/42/D1/D993/3680742/gkt937.pdf

Reference31 articles.

1. DECIPHER: web-based, community resource for clinical interpretation of rare variants in developmental disorders

2. Down's syndrome

3. Microarray based comparative genomic hybridisation (array-CGH) detects submicroscopic chromosomal deletions and duplications in patients with learning disability/mental retardation and dysmorphic features

4. Use of array CGH in the evaluation of dysmorphology, malformations, developmental delay, and idiopathic mental retardation

5. Massively parallel sequencing and rare disease

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