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Genome Biol. 2017 Apr 27;18(1):77. doi: 10.1186/s13059-017-1212-4.

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

Author information

1
Human Genetics, Wellcome Trust Sanger Institute, Genome Campus, Hinxton, CB10 1HH, UK.
2
Human Genetics, Wellcome Trust Sanger Institute, Genome Campus, Hinxton, CB10 1HH, UK. ns6@sanger.ac.uk.
3
Department of Haematology, University of Cambridge, Hills Rd, Cambridge, CB2 0AH, UK. ns6@sanger.ac.uk.
4
The National Institute for Health Research Blood and Transplant Unit (NIHR BTRU) in Donor Health and Genomics at the University of Cambridge, University of Cambridge, Strangeways Research Laboratory, Wort's Causeway, Cambridge, CB1 8RN, UK. ns6@sanger.ac.uk.

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.

PMID:
28449691
PMCID:
PMC5408830
DOI:
10.1186/s13059-017-1212-4
[Indexed for MEDLINE]
Free PMC Article

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