Short tandem repeats and genetic variation
Publikation: Bidrag til bog/antologi/rapport › Bidrag til bog/antologi › Forskning › fagfællebedømt
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Short tandem repeats and genetic variation. / Madsen, Bo Eskerod; Villesen, Palle; Wiuf, Carsten.
Genetic Variation: Methods and Protocols. Humana Press, 2010. s. 297-306 (Methods in Molecular Biology, Bind 628).Publikation: Bidrag til bog/antologi/rapport › Bidrag til bog/antologi › Forskning › fagfællebedømt
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TY - CHAP
T1 - Short tandem repeats and genetic variation
AU - Madsen, Bo Eskerod
AU - Villesen, Palle
AU - Wiuf, Carsten
PY - 2010/1/1
Y1 - 2010/1/1
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.
KW - Mechanism
KW - Mutation
KW - Pattern
KW - Polymorphism
KW - Short tandem repeat
KW - SNPs
KW - Variation
UR - http://www.scopus.com/inward/record.url?scp=77952562405&partnerID=8YFLogxK
U2 - 10.1007/978-1-60327-367-1_16
DO - 10.1007/978-1-60327-367-1_16
M3 - Book chapter
C2 - 20238088
AN - SCOPUS:77952562405
SN - 9781603273664
T3 - Methods in Molecular Biology
SP - 297
EP - 306
BT - Genetic Variation
PB - Humana Press
ER -
ID: 203900071