DECIPHER v8.8 Released
Version 8.8 of DECIPHER was released on Wednesday 8th April and introduces the following new features and enhancements:
- Absent Phenotypes: When adding phenotypes to a patient, you can now add explicitly ‘absent’ phenotypes which might be expected or relevant which the patient does not exhibit.
- Genoverse Browser: (not available on out-dated internet browsers e.g. Internet Explorer 8)
- If you are interested in exploring a region, you can browse DECIPHER usingGenoverse directly from the navigation bar at the top of the page.
- The display of LSDB data has been improved in regions with several items.
- Large CNVs: We no longer accept CNVs larger than 25Mb for usability and performance reasons. DECIPHER aims to match up patients’ microduplications, microdeletions and plausibly pathogenic sequence variants. Large CNVs which have already been deposited remain in DECIPHER, but new depositions cannot exceed 25Mb.
- Updated Reference Data: including latest gene reference data
ClinGen/DECIPHER Meeting, May 27-28, 2015
Register now for ClinGen/DECIPHER 2015!
May 27-28, 2015
Renaissance Washington, DC Downtown
United by our common goals of leveraging data sharing and collaboration to improve our understanding of human genomic variation, ClinGen and DECIPHER are pleased to co-host this two day meeting (formerly the ICCG meeting). Topics will include:
- Curating Gene-Disease Relationships
- Initiatives Facilitating Clinical Genomic IT Development
- Integrated Approaches to Informed Consent
- Lessons Learned from Aggregating Population and Patient Data
- Next Generation Bio-banking Strategies
- Tools and Approaches to Support Sequence and Structural Variant Assessment
- Introducing Genomics to the Practice of Medicine
To take advantage of early bird pricing, register before March 1, 2015!
Abstracts will be accepted until March 31, 2015.
Please visit the conference website for submission instructions.
Travel stipends are available for the most outstanding submissions. Questions? Please contact us at firstname.lastname@example.org.
For more news about DECIPHER, click here.
DECIPHER: Database of Chromosomal Imbalance and Phenotype in Humans using Ensembl Resources. Firth, H.V. et al (2009). Am.J.Hum.Genet 84, 524-533 (DOI: dx.doi.org/10/1016/j.ajhg.2009.03.010)
Authors who use data from the project must acknowledge DECIPHER using the following wording "This study makes use of data generated by the DECIPHER Consortium. A full list of centres who contributed to the generation of the data is available from http://decipher.sanger.ac.uk and via email from email@example.com. Funding for the project was provided by the Wellcome Trust."
Please see Citing DECIPHER for more information.