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
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Dissertation
Development of techniques for the isolation and characterisation of human monoclonal antibodies from Hepatitis C virus infected individuals
TL;DR: A novel insect cell display library was developed for mapping antibody-binding epitopes and a method for characterising the immunoglobulin genes of HCV infected patients was developed, providing a work model for the assessment of samples and the isolation and characterisation of antibodies.
Dissertation
Uncovering the variability, regulatory roles and mutation rates of short tandem repeats
TL;DR: This work performed the first genome-wide characterization of STR variability by analyzing over 700,000 loci in more than 1000 individuals and developed a state-of-the-art algorithm to genotype STRs, resulting in vastly improved accuracy and uncovering hundreds of replicable de novo mutations in a deeply sequenced trio.
Journal ArticleDOI
Diferenciação Genética de Gêmeos Monozigóticos: Uma Importante Evidência para Área Forense
TL;DR: The identification of SNPs in different tissues made it possible to detect mutations capable of differentiating MZ twins by assisting in paternity investigations since such mutations can be inherited by the offspring.
Patent
Human autosomal STR polymorphic site compound amplification kit and application thereof
Shi Meilin,Jiang Yingye,Fan Xiaoyun,Wang Wei,Chen Linli,Shao Zexiang,Guo Yulin,Xia Zifang,Zheng Weiguo +8 more
TL;DR: In this article, a human autosomal STR polymorphic site compound amplification (PSC-PA) kit was presented and used for detecting 25 genetic loci under the condition that the DNA template amount is below 50pg and 29 cycle amplification is carried out, so that complete genotype can be obtained.
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.