Short tandem repeats and genetic variation

TY - JOUR

T1 - Short tandem repeats and genetic variation

AU - Madsen, Bo Eskerod

AU - Villesen, Palle

AU - Wiuf, Carsten

PY - 2010

Y1 - 2010

N2 - Single nucleotide polymorphisms (SNPs) are widely distributed in the human genome and although most SNPs are the result of independent point-mutations, there are exceptions. When studying distances between SNPs, a periodic pattern in the distance between pairs of identical SNPs has been found to be heavily correlated with periodicity in short tandem repeats (STRs). STRs are short DNA segments, widely distributed in the human genome and mainly found outside known tandem repeats. Because of the biased occurrence of SNPs, special care has to be taken when analyzing SNP-variation in STRs. We present a review of STRs in the human genome and discuss molecular mechanisms related to the biased occurrence of SNPs in STRs, and its implications for genome comparisons and genetic association studies.

AB - Single nucleotide polymorphisms (SNPs) are widely distributed in the human genome and although most SNPs are the result of independent point-mutations, there are exceptions. When studying distances between SNPs, a periodic pattern in the distance between pairs of identical SNPs has been found to be heavily correlated with periodicity in short tandem repeats (STRs). STRs are short DNA segments, widely distributed in the human genome and mainly found outside known tandem repeats. Because of the biased occurrence of SNPs, special care has to be taken when analyzing SNP-variation in STRs. We present a review of STRs in the human genome and discuss molecular mechanisms related to the biased occurrence of SNPs in STRs, and its implications for genome comparisons and genetic association studies.

U2 - 10.1007/978-1-60327-367-1_16

DO - 10.1007/978-1-60327-367-1_16

M3 - Journal article

C2 - 20238088

SN - 1064-3745

VL - 628

SP - 297

EP - 306

JO - Methods in Molecular Biology

JF - Methods in Molecular Biology

ER -