DECIPHER: Database of Chromosomal Imbalance and Phenotype in Humans Using Ensembl Resources.

Firth, H.V., Richards, S.M., Bevan, A.P., Clayton, S., Corpas, M., Rajan, D., Van Vooren, S., Moreau, Y., Pettett, R.M. and Carter, N.P. 2009. DECIPHER: Database of Chromosomal Imbalance and Phenotype in Humans Using Ensembl Resources. The American Journal of Human Genetics. 84 (4), pp. P524-533. https://doi.org/10.1016/j.ajhg.2009.03.010

TitleDECIPHER: Database of Chromosomal Imbalance and Phenotype in Humans Using Ensembl Resources.
TypeJournal article
AuthorsFirth, H.V., Richards, S.M., Bevan, A.P., Clayton, S., Corpas, M., Rajan, D., Van Vooren, S., Moreau, Y., Pettett, R.M. and Carter, N.P.
Abstract

Many patients suffering from developmental disorders harbor submicroscopic deletions or duplications that, by affecting the copy number of dosage-sensitive genes or disrupting normal gene expression, lead to disease. However, many aberrations are novel or extremely rare, making clinical interpretation problematic and genotype-phenotype correlations uncertain. Identification of patients sharing a genomic rearrangement and having phenotypic features in common leads to greater certainty in the pathogenic nature of the rearrangement and enables new syndromes to be defined. To facilitate the analysis of these rare events, we have developed an interactive web-based database called DECIPHER (Database of Chromosomal Imbalance and Phenotype in Humans Using Ensembl Resources) which incorporates a suite of tools designed to aid the interpretation of submicroscopic chromosomal imbalance, inversions, and translocations. DECIPHER catalogs common copy-number changes in normal populations and thus, by exclusion, enables changes that are novel and potentially pathogenic to be identified. DECIPHER enhances genetic counseling by retrieving relevant information from a variety of bioinformatics resources. Known and predicted genes within an aberration are listed in the DECIPHER patient report, and genes of recognized clinical importance are highlighted and prioritized. DECIPHER enables clinical scientists worldwide to maintain records of phenotype and chromosome rearrangement for their patients and, with informed consent, share this information with the wider clinical research community through display in the genome browser Ensembl. By sharing cases worldwide, clusters of rare cases having phenotype and structural rearrangement in common can be identified, leading to the delineation of new syndromes and furthering understanding of gene function.

JournalThe American Journal of Human Genetics
Journal citation84 (4), pp. P524-533
ISSN0002-9297
1537-6605
Year2009
PublisherCell Press
Cello Press Ltd
Digital Object Identifier (DOI)https://doi.org/10.1016/j.ajhg.2009.03.010
PubMed ID19344873
Web address (URL)http://europepmc.org/abstract/med/19344873
Publication dates
Published02 Apr 2009

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Gehlenborg, N., Corpas, M. and Janga, S.C. 2007. Highlights from the Third International Society for Computational Biology Student Council Symposium at the Fifteenth Annual International Conference on Intelligent Systems for Molecular Biology. BMC Bioinformatics. 8 (Supplement 8) I1. https://doi.org/10.1186/1471-2105-8-s8-i1

Folding patterns in protein sequences
Corpas, M. 2007. Folding patterns in protein sequences. PhD thesis University of Manchester https://doi.org/10.6084/m9.figshare.964811.v1

PFF--an integrated database of residues and fragments critical for protein folding
Corpas, M., Sinnott, J., Thorne, D., Pettifer, S., Attwood , T. and the PFF consortium 2007. PFF--an integrated database of residues and fragments critical for protein folding. BMC Systems Biology. 1 P48. https://doi.org/10.1186/1752-0509-1-S1-P48

Scientists & societies: Community outreach
Corpas, M. 2005. Scientists & societies: Community outreach. Nature. 436, p. 1204. https://doi.org/10.1038/nj7054-1204b

Integrating simulation packages via systems biology mark-up language
Corpas, M. 2003. Integrating simulation packages via systems biology mark-up language. in: International Conference on Computational Methods in Systems Biology Springer.

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