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

2017; BioMed Central; Volume: 18; Issue: 1 Linguagem: Inglês

10.1186/s13059-017-1212-4

1474-760X

Lorenzo Bomba, Klaudia Walter, Nicole Soranzo,

Genetics and Neurodevelopmental Disorders

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.