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

Lorenzo Bomba; Klaudia Walter; Nicole Soranzo

doi:10.1186/s13059-017-1212-4

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

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

Authors

Lorenzo Bomba¹, Klaudia Walter¹, Nicole Soranzo^{2

3

4}

Affiliations

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.

Publication types

Review
Research Support, Non-U.S. Gov't

MeSH terms

Computational Biology / methods
Genetic Association Studies / methods*
Genetic Predisposition to Disease*
Genetic Variation
Genome-Wide Association Study
Genomics / methods
Humans
Mutation Rate

Abstract

Publication types

MeSH terms

Grants and funding