다중혈관 관상동맥 환자에서 y-문합을 이용하여 양쪽 내흉동맥만을 사용한 우회술의 조기 성적

비만아 부모의 돌봄 경험: q 방법론

National Institute of Standards and Technology における超伝導研究及び生活

We use high-density single nucleotide polymorphism (SNP) genotyping microarrays to demonstrate the ability to accurately and robustly determine whether individuals are in a complex genomic DNA mixture. We first develop a theoretical framework for detecting an individual's presence within a mixture, then show, through simulations, the limits associated with our method, and finally demonstrate experimentally the identification of the presence of genomic DNA of specific individuals within a series of highly complex genomic mixtures, including mixtures where an individual contributes less than 0.1% of the total genomic DNA. These findings shift the perceived utility of SNPs for identifying individual trace contributors within a forensics mixture, and suggest future research efforts into assessing the viability of previously sub-optimal DNA sources due to sample contamination. These findings also suggest that composite statistics across cohorts, such as allele frequency or genotype counts, do not mask identity within genome-wide association studies. The implications of these findings are discussed.

http://biosun01.biostat.jhsph.edu/%7Eiruczins/teaching/misc/gwas/papers/homer2008.pdf

Resolving individuals contributing trace amounts of DNA to highly complex mixtures using high-density SNP genotyping microarrays.

Although genotyping errors affect most data and can markedly influence the biological conclusions of a study, they are too often neglected. Errors have various causes, but their occurrence and effect can be limited by considering these causes in the production and analysis of the data. Procedures that have been developed for dealing with errors in linkage studies, forensic analyses and non-invasive genotyping should be applied more broadly to any genetic study. We propose a protocol for estimating error rates and recommend that these measures be systemically reported to attest the reliability of published genotyping studies.

Genotyping errors: causes, consequences and solutions.

Ch 1: Overview & History of DNA Typing Ch 2: DNA Biology Review Ch 3: Sample Collection, DNA Extraction, and DNA Quantitation Ch 4: The Polymerase Chain Reaction (DNA Amplification) Ch 5: Commonly Used Short Tandem Repeat Markers and Commercial Kits Ch 6: Biology of STRs Ch 7: Forensic Issues Ch 8: Single Nucleotide Polymorphisms & Other Bi-allelic Markers Ch 9: Y-Chromosome DNA Testing Ch 10: Mitochondrial DNA Analysis Ch 11: Non-Human DNA and Microbial Forensics Ch 12: DNA Separation Methods Ch 13: DNA Detection Methods Ch 14: Instrumentation for STR Typing Ch 15: STR Genotyping Issues Ch 16: Laboratory Validation Ch 17: New Technologies, Automation, and Expert Systems Ch 18: CODIS and DNA Databases Ch 19: Basic Genetic Principles, Statistics, & Probability Ch 20: STR Population Database Analyses Ch 21: Profile Frequency Estimates, Likelihood Ratios & Source Attribution Ch 22: Approaches to Statistical Analysis of Mixtures and Degraded DNA Ch 23: Kinship and Parentage Testing Ch 24: Mass Disaster DNA Victim Identification App I: Reported STR Alleles App II: Population Data-STR Allele Frequencies App III: Suppliers of DNA Analysis Supplies App IV: DAB QA Standards App V: DAB Recommendations on Statistics App VI: NRC II Recommendations App VII: Example DNA Cases

Forensic DNA Typing: Biology, Technology, and Genetics of STR Markers

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.

https://www.sjsu.edu/people/steven.lee/courses/JS111FLUOR/s0/Butler2006JFS_coreSTRreview.pdf

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

New multiplex PCR sets of commonly used short tandem repeat (STR) markers have been developed to produce PCR products that are reduced in size when compared to standard commercial STR kits. The reduction in size of these amplicons can facilitate the examination and analysis of degraded DNA evidence by improving amplification efficiency. This "miniSTR" approach will permit current forensic practitioners to use STR markers and instrumentation already present in their laboratories and to generate genotyping data that is directly comparable to reference samples and searchable through the FBI's Combined DNA Index System (CODIS) databases. This paper discusses the development of these new primer sets and presents some initial results in the analysis of degraded and aged DNA samples. A method for removal of problematic fluorescent dye artifacts is also described. Comparison studies in over 100 samples have verified that these miniSTR primers can provide fully concordant results to commercial STR kits and can provide improved signal from degraded DNA specimens. These miniplex sets should prove valuable in the analysis of samples where allele dropout and reduced sensitivity of larger STR alleles occurs.

/pdf/the-development-of-reduced-size-str-amplicons-as-tools-for-2henjyl34q.pdf

The development of reduced size STR amplicons as tools for analysis of degraded DNA.

The ability to select short DNA oligonucleotide sequences capable of binding solely to their intended target is of great importance in developing nucleic acid based detection technologies. Applicat...

https://www.future-science.com/doi/pdf/10.2144/04372ST03

John M. Butler

Papers

Forensic DNA Typing: Biology, Technology, and Genetics of STR Markers

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

The development of reduced size STR amplicons as tools for analysis of degraded DNA.

AutoDimer: a screening tool for primer-dimer and hairpin structures.

DNA Commission of the International Society of Forensic Genetics (ISFG): an update of the recommendations on the use of Y-STRs in forensic analysis.