Summarizing polygenic risks for complex diseases in a clinical whole-genome report.

Sek Won KongIn-Hee LeeIgnaty LeshchinerJoel KrierPeter KraftHeidi L RehmRobert C GreenIsaac S KohaneCalum A MacRaenull null

Published in: Genetics in medicine : official journal of the American College of Medical Genetics (2014)

Our approach in the MedSeq Project demonstrates how complex trait risk variants from an individual genome can be summarized and reported for the general clinician and also highlights the need for definitive clinical studies to obtain reference data for such estimates and to establish clinical utility.

Keyphrases

genome wide
copy number
quality improvement
big data
human health
squamous cell carcinoma
machine learning
risk assessment
climate change
data analysis