Advances in sequencing technology have taught us much about the human genome, including how difficult it is to interpret rare variation. Improvements in genetic test interpretation are likely to come through data sharing, international collaborative efforts to develop disease-gene specific guidelines, and computational analyses using big data.
View details for DOI 10.1186/s13073-016-0325-9
View details for Web of Science ID 000378592700002
View details for PubMedID 27324065
View details for PubMedCentralID PMC4915179