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Journal ArticleDOI

Genetics and genomics of core short tandem repeat loci used in human identity testing.

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TLDR
The physical location of each STR locus in the human genome is delineated and allele ranges and variants observed in human populations are summarized as are mutation rates observed from parentage testing.
Abstract
Over the past decade, the human identity testing community has settled on a set of core short tandem repeat (STR) loci that are widely used for DNA typing applications. A variety of commercial kits enable robust amplification of these core STR loci. A brief history is presented regarding the selection of core autosomal and Y-chromosomal STR markers. The physical location of each STR locus in the human genome is delineated and allele ranges and variants observed in human populations are summarized as are mutation rates observed from parentage testing. Internet resources for additional information on core STR loci are reviewed. Additional topics are also discussed, including potential linkage of STR loci to genetic disease-causing genes, probabilistic predictions of sample ethnicity, and desirable characteristics for additional STR loci that may be added in the future to the current core loci. These core STR loci, which form the basis for DNA databases worldwide, will continue to play an important role in forensic science for many years to come.

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Dissertation

Age-dependent microsatellite somatic mosaicism in humans

TL;DR: The investigation of other non-disease-associated expanded microsatellites in order to explore their variability, which in turn could be used to predict age in the general population, and the success with the NGS observed, indicate a reasonable potential of using microsatellite to estimate ageing in humans.
Journal ArticleDOI

DNA forense aplicado na identificação de vítimas de crimes em Pernambuco, Brasil

TL;DR: A abordagem genetica para identificacao humana, principalmente vitimas de crimes, e uma condicao importantissima para a resolucao de qualquer tipo of processo criminal e reduzir ainda mais a agonia vivida por familias que tiveram seus entes queridos desaparecidos.
Journal ArticleDOI

Assessment of the stability of DNA in specimens collected under conditions for drug testing—A pilot study

TL;DR: The goal of this pilot study was to determine the potential effects of short-term storage on the quality and quantity of DNA in both types of specimen under conditions that may be encountered with employment-related drug testing specimens.
Book ChapterDOI

Integrated microfluidic systems for genetic analysis

TL;DR: Microfluidic systems fully integrated by microfabrication technology provide researchers with leverage to explore a variety of challenging research topics, such as automated DNA sequencing, single-cell gene expression characterisation, decentralised pathogen detection and forensic human identification.
References
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Journal ArticleDOI

Initial sequencing and analysis of the human genome.

Eric S. Lander, +248 more
- 15 Feb 2001 - 
TL;DR: The results of an international collaboration to produce and make freely available a draft sequence of the human genome are reported and an initial analysis is presented, describing some of the insights that can be gleaned from the sequence.
Journal ArticleDOI

Finishing the euchromatic sequence of the human genome

Chris P. Ponting, +1 more
- 21 Oct 2004 - 
TL;DR: The current human genome sequence (Build 35) as discussed by the authors contains 2.85 billion nucleotides interrupted by only 341 gaps and is accurate to an error rate of approximately 1 event per 100,000 bases.
Journal ArticleDOI

Microsatellites: simple sequences with complex evolution

TL;DR: Few genetic markers, if any, have found such widespread use as microsatellites, or simple/short tandem repeats, but features such as hypervariability and ubiquitous occurrence explain their usefulness, but these features also pose several questions.
Journal ArticleDOI

Genetic variation at five trimeric and tetrameric tandem repeat loci in four human population groups.

TL;DR: The results suggest that trimeric and tetrameric STR loci are useful markers for the study of new mutations and genetic linkage analysis and for application to personal identification in the medical and forensic sciences.
Journal Article

DNA typing and genetic mapping with trimeric and tetrameric tandem repeats.

TL;DR: A method enabling rapid localization of STRs and determination of their flanking DNA sequences was developed, thus simplifying the identification of polymorphic STR loci.
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