TY - JOUR
T1 - SNP analysis to dissect human traits
AU - Nowotny, Petra
AU - Kwon, Jennifer M.
AU - Goate, Alison M.
N1 - Funding Information:
This work was supported by NIH grants AG16208 and AA08403 and funding from the Leda J Sears Trust.
PY - 2001
Y1 - 2001
N2 - The analysis of complex human diseases has been spurred by the number of published genomic sequence variants - many identified in the course of sequencing the human genome. But, to be useful for genetic analysis, variants have to be mapped accurately, their frequencies in various populations determined, and automated high-throughput assay techniques developed. Recently proposed methods address these issues: the use of 'reduced representation shotgun' methods for more efficient detection of single nucleotide polymorphisms (SNPs), the employment of high-throughput genotyping techniques, the development of SNP maps that incorporate information about linkage disequilibrium, and the use of SNPs in identifying susceptibility genes for common illnesses.
AB - The analysis of complex human diseases has been spurred by the number of published genomic sequence variants - many identified in the course of sequencing the human genome. But, to be useful for genetic analysis, variants have to be mapped accurately, their frequencies in various populations determined, and automated high-throughput assay techniques developed. Recently proposed methods address these issues: the use of 'reduced representation shotgun' methods for more efficient detection of single nucleotide polymorphisms (SNPs), the employment of high-throughput genotyping techniques, the development of SNP maps that incorporate information about linkage disequilibrium, and the use of SNPs in identifying susceptibility genes for common illnesses.
UR - http://www.scopus.com/inward/record.url?scp=0035476154&partnerID=8YFLogxK
U2 - 10.1016/S0959-4388(00)00261-0
DO - 10.1016/S0959-4388(00)00261-0
M3 - Review article
C2 - 11595500
AN - SCOPUS:0035476154
SN - 0959-4388
VL - 11
SP - 637
EP - 641
JO - Current Opinion in Neurobiology
JF - Current Opinion in Neurobiology
IS - 5
ER -