title: Interpretation of genomic copy number variants using DECIPHER.
abstract: Many patients suffering from developmental disorders have submicroscopic deletions or duplications affecting the copy number of dosage-sensitive genes or disrupting normal gene expression. Many of these changes are novel or extremely rare, making clinical interpretation problematic and genotype/phenotype correlations difficult. Identification of patients sharing a genomic rearrangement and having phenotypes in common increases certainty in the diagnosis and allows characterization of new syndromes. The DECIPHER database is an online repository of genotype and phenotype data whose chief objective is to facilitate the association of genomic variation with phenotype to enable the clinical interpretation of copy number variation (CNV). This unit shows how DECIPHER can be used to (1) search for consented patients sharing a defined chromosomal location, (2) navigate regions of interest using in-house visualization tools and the Ensembl genome browser, (3) analyze affected genes and prioritize them according to their likelihood of haploinsufficiency, (4) upload patient aberrations and phenotypes, and (5) create printouts at different levels of detail. By following this protocol, clinicians and researchers alike will be able to learn how to characterize their patients' chromosomal imbalances using DECIPHER.
authors.affiliation: Wellcome Trust Sanger Institute, Wellcome Trust Genome Campus, Hinxton, Cambridge, United Kingdom.
authors.forename: Manuel
authors.initials: M
authors.lastname: Corpas
authors.forename: Eugene
authors.initials: E
authors.lastname: Bragin
authors.forename: Stephen
authors.initials: S
authors.lastname: Clayton
authors.forename: Paul
authors.initials: P
authors.lastname: Bevan
authors.forename: Helen V
authors.initials: HV
authors.lastname: Firth
mesh_terms: D056915:DNA Copy Number Variations; D030541:Databases, Genetic; D002658:Developmental Disabilities / Q000235:genetics; D056726:Genetic Association Studies; D023281:Genomics / Q000379:methods*; D006801:Humans; D020407:Internet; D014584:User-Computer Interface