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.
DECIPHER v8.6 released
Version 8.6 of DECIPHER includes the following changes and enhancements.
- Improved karyotype view on phenotype-based searches – The karyotype view is shown in a tab next to the tabular listing of results. The karyotype view switches to histogram view when there are many results. Click on any of the features to see an expanded view of the results at that position. (Will not work on older browsers like Internet Explorer 8).
- Initiate contact with depositing clinician from consented patient page – If you are not a logged in a user of DECIPHER, you can initiate contact with the depositing clinician using the “Contacts” button on the patient page. This contact request will be validated by the DECIPHER team and forwarded to the depositor.
- Improved search: Search now includes searches by consequence (for example: missense_variant).
- Karyotype view on project overview: As a logged in user, you can now see a karyotype view of all patients in your project. (Does not work on older internet browsers like Internet Explorer 8).
- Discriminate between own patients and other patients: We have enabled additional filters in the interactive genome browser and in the table of overlapping patients to enable exclusion/inclusion of own patients.
- Miscellaneous changes to improve usability
- Fewer clicks to get to your own patients from the “My Patients” link for logged in users
- Additional filters in position-based search results to quickly identify CNV (gains/losses) and SNVs.
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.