TY - JOUR
T1 - Mapping rare and common causal alleles for complex human diseases
AU - Raychaudhuri, Soumya
N1 - K08 AR055688-01A1S1, NIAMS NIH HHS, United StatesK08 AR055688-04, NIAMS NIH HHS, United StatesK08 AR055688-05, NIAMS NIH HHS, United States
PY - 2011/9/30
Y1 - 2011/9/30
N2 - 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. © 2011 Elsevier Inc.
AB - 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. © 2011 Elsevier Inc.
UR - https://www.scopus.com/pages/publications/80053474802
U2 - 10.1016/j.cell.2011.09.011
DO - 10.1016/j.cell.2011.09.011
M3 - Article
C2 - 21962507
SN - 1097-4172
VL - 147
SP - 57
EP - 69
JO - Cell
JF - Cell
IS - 1
ER -
