CLARITY challenge

http://www.childrenshospital.org/research-and-innovation/research-initiatives/clarity-challenge

http://genomebiology.com/2014/15/3/R53/abstract

 An international effort towards developing standards for best practices in analysis, interpretation and reporting of clinical genome sequencing results in the CLARITY Challenge

The CLARITY Challenge provides a comprehensive assessment of current practices for using genome sequencing to diagnose and report genetic diseases. There is remarkable convergence in bioinformatic techniques, but medical interpretation and reporting are areas that require further development by many groups.

The CLARITY Challenge (Children’s Leadership Award for the Reliable Interpretation and appropriate Transmission of Your genomic information) is a contest initiated by Boston Children’s Hospital. Its goal is to identify best methods and practices for the analysis, interpretation and reporting of individuals’ DNA sequence data, to provide the most meaningful results to clinicians, patients and families. 

Lower Mainland Health organizations to implement a single patient health record through clinical and systems transformation

http://www.phsa.ca/NR/rdonlyres/7D201331-879F-4F43-A026-289A1FFA8427/63241/Information_Bulletin_CST_contract_4April2013.pdf

VANCOUVER — Vancouver Coastal Health (VCH), Providence Health Care (PHC), and the  Provincial Health Services Authority (PHSA) have successfully concluded contract negotiations  with IBM Canada to achieve the strategic vision of one clinical record per patient in our core health  service organizations in British Columbia. 

A single health record for each patient will promote high quality care by ensuring clinicians and  care teams have a greater level of accurate and consistent patient information at the touch of their  fingers. Amalgamating this information into a more comprehensive view of health trends and  treatment outcomes ensures the health organizations can better serve British Columbians. It also  enhances the ability to do even more world-class research in our own backyard.

DECIPHER - chromosomal imbalance

DECIPHER

The DECIPHER database of submicroscopic chromosomal imbalance collects clinical information about chromosomal microdeletions/duplications/insertions, translocations and inversions

DECIPHER is an online repository of CNV and phenotype data whose goal is to enable the clinical interpretation of CN variation (Corpas et al., 2012). The web interface includes a number of tracks (associated syndrome, CNV consensus track, haplo-insufficiency track) that facilitate data interpretation. 


http://decipher.sanger.ac.uk/