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Biological databases / Wellcome Trust / Genomics / DECIPHER / Virtual karyotype / 8p23.1 duplication syndrome / Biology / Genetics / Molecular genetics


REPORT DECIPHER: Database of Chromosomal Imbalance and Phenotype in Humans Using Ensembl Resources Helen V. Firth,1,* Shola M. Richards,2 A. Paul Bevan,2 Stephen Clayton,2 Manuel Corpas,2 Diana Rajan,2 Steven Van Vooren,
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Document Date: 2013-10-23 05:37:06


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City

Vancouver / Leuven-Heverlee / Bernheim / New York / Howard-Peebles / Sanlaville / Hamel / /

Company

Oxford University Press / Yatsenko S.A. / Knoers N.V. / Wellcome Trust / Medline / MySQL / Lynch S.A. / Humans Using Ensembl Resources / /

Country

United Kingdom / /

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Facility

Wellcome Trust Genome Campus / Addenbrooke’s Hospital / Wellcome Trust Sanger Institute / /

IndustryTerm

genomic microarray technology / text-mining tools / web links / phenotype search term / Web Resources / feature graph tool / Apache web server / search function / bioinformatic tools / efficient solution / project / web browsers / search facility / interactive web-based database / molecular tools / mod_perl web interface / uk/nomenclature/ Online Mendelian Inheritance / web code / /

MedicalCondition

microcephaly / cerebral amyloid angiopathy / congenital heart disease / mild learning disability / autosomal dominant early-onset Alzheimer disease / cancer-predisposition syndrome / deletion syndrome / disorder / tuberous sclerosis / clinical syndrome / hyperkinetic conduct disorder / Williams syndrome / idiopathic mental retardation / well-recognized microdeletion disorders / microdeletion syndrome / numerous adenomas / tumor / specific syndrome / metastatic carcinoma / cognitive impairment / human congenital heart defects / supravalvular aortic stenosis / cleft palate / dominantly inherited disorders / thrombocytopenia-absent radius syndrome / peroneal muscular atrophy / polymicrogyria / SOX2 cause anophthalmia / disorders / common disease / colorectal cancer / learning disability / recurrent 15q24 microdeletion syndrome / specific disorders / developmental disorders / Familial adenomatous polyposis / complex cyanotic congenital heart disease / novo dominant disorders / fatigue / rare syndrome / cleft lip / recessively inherited disorders / sporadic disease / Williams-Beuren syndrome / disease / developmental disorder / chromodomain gene family cause CHARGE syndrome / genomic disorders / several later-onset disorders / disability/mental retardation / menorrhagia / early-onset Alzheimer disease / anophthalmia gene36 / human disease / syndrome / experiencing fatigue / /

MedicalTreatment

cardiac surgery / surgery / counseling / /

Movie

A.D. / /

Organization

DECIPHER Consortium / Cambridge University / DECIPHER Advisory Board / HUGO Gene Nomenclature Committee / Addenbrooke’s Hospital / Multi-Centre Research Ethics Committee / Oxford University / DECIPHER administration / American Society of Human Genetics / 2The Wellcome Trust Sanger Institute / /

Person

Lionel Willatt / Lakshmi / Van Vooren / Nat / Gene Nomenclature / Martin Bobrow / Blair / Fiegler / Jim Lupski / Andrews / Van Ravenswaaij / Williamson / Anthony V. Cox / /

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Position

Butler / T.D. / King / Hb / advisors / Walker / researcher / colorectal surgeon / pediatric psychiatrist / /

ProgrammingLanguage

Perl / /

ProvinceOrState

British Columbia / P.N. / /

PublishedMedium

The American Journal of Human Genetics / PLoS ONE / /

Technology

genotyping / human genome / CGI / jsp / DNA Chip / gene expression / genotype / bioinformatics / genomic microarray technology / relational database / hybridization / Perl / SSL / http / SNP / web server / /

URL

http /

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