Format

Send to

Choose Destination
Cell. 2011 Sep 30;147(1):57-69. doi: 10.1016/j.cell.2011.09.011.

Mapping rare and common causal alleles for complex human diseases.

Author information

1
Division of Genetics, Brigham & Women's Hospital, Harvard Medical School, Boston, MA 02115, USA. soumya@broadinstitute.org

Abstract

Advances in genotyping and sequencing technologies have revolutionized the genetics of complex disease by locating rare and common variants that influence an individual's risk for diseases, such as diabetes, cancers, and psychiatric disorders. However, to capitalize on these data for prevention and therapies requires the identification of causal alleles and a mechanistic understanding for how these variants contribute to the disease. After discussing the strategies currently used to map variants for complex diseases, this Primer explores how variants may be prioritized for follow-up functional studies and the challenges and approaches for assessing the contributions of rare and common variants to disease phenotypes.

PMID:
21962507
PMCID:
PMC3198013
DOI:
10.1016/j.cell.2011.09.011
[Indexed for MEDLINE]
Free PMC Article

Supplemental Content

Full text links

Icon for Elsevier Science Icon for PubMed Central
Loading ...
Support Center