The impact of rare and low-frequency genetic variants in common disease.

ABSTRACT: Despite thousands of genetic loci identified to date, a large proportion of genetic variation predisposing to complex disease and traits remains unaccounted for. Advances in sequencing technology enable focused explorations on the contribution of low-frequency and rare variants to human traits. Here we review experimental approaches and current knowledge on the contribution of these genetic variants in complex disease and discuss challenges and opportunities for personalised medicine.

SUBMITTER: Bomba L 

PROVIDER: S-EPMC5408830 | biostudies-literature | 2017 Apr

REPOSITORIES: biostudies-literature