TY - GEN
T1 - LobSTR
T2 - 16th Annual International Conference on Research in Computational Molecular Biology, RECOMB 2012
AU - Gymrek, Melissa
AU - Golan, David
AU - Rosset, Saharon
AU - Erlich, Yaniv
PY - 2012
Y1 - 2012
N2 - Motivation. Short tandem repeats (STRs), also known as microsatellites, are a class of genetic variations consisting of repetitive elements of 2 to 6 nucleotides that comprise hundreds of thousands of loci in the human genome. The repetitive structure of these loci makes them prone to replication slippage events [5] that can reach a rate of 1/500 mutations per locus per generation [8], 200,000 fold higher than the rate of de novo single nucleotide polymorphims (SNPs) [1]. Given their high mutation rate and large allele space, STRs represent a significant source of genetic variation and have been used in a plethora of applications in human genetics including forensics [3], anthropological applications [7], and tracing cancer cell lineages [2]. Additionally, STR expansions are implicated in the etiology of a variety of genetic disorders, such as Huntingon Disease [6] and Fragile-X Syndrome [5].
AB - Motivation. Short tandem repeats (STRs), also known as microsatellites, are a class of genetic variations consisting of repetitive elements of 2 to 6 nucleotides that comprise hundreds of thousands of loci in the human genome. The repetitive structure of these loci makes them prone to replication slippage events [5] that can reach a rate of 1/500 mutations per locus per generation [8], 200,000 fold higher than the rate of de novo single nucleotide polymorphims (SNPs) [1]. Given their high mutation rate and large allele space, STRs represent a significant source of genetic variation and have been used in a plethora of applications in human genetics including forensics [3], anthropological applications [7], and tracing cancer cell lineages [2]. Additionally, STR expansions are implicated in the etiology of a variety of genetic disorders, such as Huntingon Disease [6] and Fragile-X Syndrome [5].
UR - http://www.scopus.com/inward/record.url?scp=84860817498&partnerID=8YFLogxK
U2 - 10.1007/978-3-642-29627-7_7
DO - 10.1007/978-3-642-29627-7_7
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AN - SCOPUS:84860817498
SN - 9783642296260
T3 - Lecture Notes in Computer Science (including subseries Lecture Notes in Artificial Intelligence and Lecture Notes in Bioinformatics)
SP - 62
EP - 63
BT - Research in Computational Molecular Biology - 16th Annual International Conference, RECOMB 2012, Proceedings
Y2 - 21 April 2012 through 24 April 2012
ER -
