lobSTR: A Short Tandem Repeat Profiler for Personal Genomes

  • Melissa Gymrek
  • David Golan
  • Saharon Rosset
  • Yaniv Erlich
Conference paper
Part of the Lecture Notes in Computer Science book series (LNCS, volume 7262)

Abstract

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].

Keywords

Short Tandem Repeat High Mutation Rate Repetitive Structure Short Tandem Repeat Profiler Genome Sequencing Study 
These keywords were added by machine and not by the authors. This process is experimental and the keywords may be updated as the learning algorithm improves.
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Copyright information

© Springer-Verlag Berlin Heidelberg 2012

Authors and Affiliations

  • Melissa Gymrek
    • 1
    • 2
  • David Golan
    • 2
  • Saharon Rosset
    • 3
  • Yaniv Erlich
    • 2
  1. 1.Harvard-MIT Division of Health Sciences and TechnologyCambridgeUSA
  2. 2.Whitehead Institute for Biomedical ResearchCambridgeUSA
  3. 3.Department of Statistics and Operations ResearchTel Aviv UniversityTel AvivIsrael

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