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.read more
Citations
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Journal ArticleDOI
Targeted capture and sequencing of 1245 SNPs for forensic applications.
Liangjun Wu,Xufeng Chu,Jing Zheng,Chao Xiao,Zhe Zhang,Guiyang Huang,Dan Li,Jinbang Zhan,Daixin Huang,Ping Hu,Bo Xiong +10 more
TL;DR: A highly accurate and cost-effective method of SNP genotyping, which is potentially capable of solving complex issues encountered in forensic practices is established.
Journal ArticleDOI
MLPA and DNA index improve the molecular diagnosis of childhood B-cell acute lymphoblastic leukemia
Chih Hsiang Yu,Tze Kang Lin,Shiann-Tarng Jou,Chien-Yu Lin,Kai-Hsin Lin,Meng-Yao Lu,Shu Huey Chen,Chao Neng Cheng,Kang Hsi Wu,Shih Chung Wang,Hsiu-Hao Chang,Meng-Ju Li,Yu Ling Ni,Yi Ning Su,Dong-Tsamn Lin,Hsuan-Yu Chen,Christine J. Harrison,Chia Cheng Hung,Shu-Wha Lin,Yung-Li Yang +19 more
TL;DR: In this paper, the authors used Multiplex Ligation-dependent Probe Amplification (MLPA) to identify aneuploidy in childhood B-cell acute lymphoblastic leukemia.
BookDOI
Hidden Variation in Microsatellite Loci: Utility and Implications for Forensic DNA Analysis.
John V. Planz,Thomas A. Hall +1 more
TL;DR: The nature of these additional allelic polymorphisms, what is known of their distribution among the STR loci utilized in forensic testing and within populations, and the advantages this level of allelic discrimination has in forensic and relationship testing are discussed.
Book ChapterDOI
DNA Databases: Uses and Issues
TL;DR: Privacy concerns surrounding the rapid expansion of DNA databases are reviewed and the CODIS system utilizes 13 core STR markers while many other national DNA databases use some of the same loci and some additional ones.
Journal ArticleDOI
A forensic perspective on the genetic identification of grapevine (Vitis vinifera L.) varieties using STR markers
TL;DR: A set of basic suggestions are brought forward that reinforce the need to guarantee trueness‐to‐type of the sample and use the long core‐repeat markers in standardized state‐of‐the‐art human forensic genotyping.
References
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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,Daniel Barker +1 more
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.
Albert O. Edwards,Holly A. Hammond,Li Jin,C. Thomas Caskey,C. Thomas Caskey,Ranajit Chakraborty +5 more
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.