当前位置： SCI文献检索 > INTERNATIONAL JOURNAL OF LEGAL MEDICINE期刊下所有文献 > Single nucleotide polymorphism typing with massively parallel sequencing for human identification.

Single nucleotide polymorphism typing with massively parallel sequencing for human identification.

Abstract：

:The Ion AmpliSeq™ HID single nucleotide polymorphism (SNP) panel, a primer pool of 103 autosomal SNPs and 33 Y-SNPs, was evaluated using the Ion 314™ Chip on the Ion PGM™ Sequencer with four DNA samples. The study focused on the sequencing of DNA at three different initial target quantities, related interpretation issues, and concordance of results with another sequencing platform, i.e., Genome Analyzer IIx. With 10 ng of template DNA, all genotypes at the 136 SNPs were detected. With 1 ng of DNA, all SNPs were detected and one SNP locus in one sample showed extreme heterozygote imbalance on allele coverage. With 100 pg of DNA, an average of 1.6 SNP loci were not detected, and an average of 4.3 SNPs showed heterozygote imbalance. The average sequence coverage was 945-600× at autosomal SNPs and 465-209× at Y-SNPs for 10 ng-100 pg of DNA. The average heterozygote allele coverage ratio was 89.6-61.8 % for 10 ng-100 pg of DNA. At 10 ng of DNA, all genotypes of the 95 SNPs shared between the two different sequencing platforms were concordant except for one SNP, rs1029047. The error was due to the misalignment of a flanking homopolymer. Overall, the data support that genotyping a large battery of SNPs is feasible with massively parallel sequencing. With barcode systems, better allele balance, and specifically designed alignment software, a more comprehensive rapid genotyping and more cost-effective results may be obtained from multiple samples in one analysis than are possible with current typing and capillary electrophoresis systems.

journal_name

Int J Legal Med

journal_title

International journal of legal medicine

authors

Seo SB,King JL,Warshauer DH,Davis CP,Ge J,Budowle B

doi

10.1007/s00414-013-0879-7

subject

Has Abstract

pub_date

2013-11-01 00:00:00

pages

1079-86

issue

6

eissn

0937-9827

issn

1437-1596

journal_volume

127

pub_type

杂志文章

相关文献

INTERNATIONAL JOURNAL OF LEGAL MEDICINE文献大全
  • Multiple suicidal injuries with shotgun slugs.

    abstract：:Shotguns are usually used to fire multiple pellets, but they are capable of firing single projectiles. Shotgun slug injuries are rare, severe, and fully comparable to those inflicted by high-velocity projectiles. A case of gunshot suicide of a 59-year-old man with a shotgun loaded with shotgun slugs is presented. The ...

    journal_title：International journal of legal medicine

    pub_type： 杂志文章

    doi：10.1007/s00414-009-0325-z

    authors： Hejna P

    更新日期：2010-01-01 00:00:00

  • Forensic 3D documentation of skin injuries.

    abstract：:An accurate and precise documentation of injuries is fundamental in a forensic pathological context. Photographs and manual measurements are taken of all injuries during autopsies, but ordinary photography projects a 3D wound on a 2D space. Using technologies such as photogrammetry, it is possible to create 3D detaile...

    journal_title：International journal of legal medicine

    pub_type： 杂志文章

    doi：10.1007/s00414-016-1499-9

    authors： Villa C

    更新日期：2017-05-01 00:00:00

  • Mitochondrial DNA analysis of Swedish population samples.

    abstract：:As a contribution to the geographic coverage of EMPOP, currently the best available forensic mitochondrial DNA (mtDNA) database, a total of 299 Swedish individuals were analysed by sequencing of the first and second hypervariable regions of the mtDNA genome. In this sample set, a total of 179 different haplotypes were...

    journal_title：International journal of legal medicine

    pub_type： 杂志文章

    doi：10.1007/s00414-013-0908-6

    authors： Lembring M,van Oven M,Montelius M,Allen M

    更新日期：2013-11-01 00:00:00

  • Capillary zone electrophoresis and artificial neural networks for estimation of the post-mortem interval (PMI) using electrolytes measurements in human vitreous humour.

    abstract：:Determination of electrolyte concentrations (mainly potassium) in vitreous humour has long been considered an important tool in human death investigations for the estimation of the post-mortem interval (PMI). On the basis of its well known potential in ion analysis, capillary zone electrophoresis (CZE) has recently be...

    journal_title：International journal of legal medicine

    pub_type： 杂志文章

    doi：10.1007/s004140100239

    authors： Bocaz-Beneventi G,Tagliaro F,Bortolotti F,Manetto G,Havel J

    更新日期：2002-02-01 00:00:00

  • Age estimation in children by measurement of open apices in teeth: an Indian formula.

    abstract：:The aim of this paper is twofold: first, to evaluate an Indian sample by Cameriere's European formula; and second, if this formula turns out to be unsuitable, to study a specific formula for Indian children. Orthopantomographs taken from 480 Indian children (227 girls and 253 boys) aged between 3 and 15 years were ana...

    journal_title：International journal of legal medicine

    pub_type： 杂志文章

    doi：10.1007/s00414-010-0427-7

    authors： Rai B,Kaur J,Cingolani M,Ferrante L,Cameriere R

    更新日期：2010-05-01 00:00:00

  • Detection of vaginal fluid stains on common substrates via ATR FT-IR spectroscopy.

    abstract：:The analysis of body fluids is of utmost importance in forensic casework since many biological fluids contain DNA. The ATR FT-IR spectroscopy is an emerging approach for the confirmatory, rapid, facile, non-destructive, and on-site identification and differentiation of body fluid stains. Notwithstanding the ATR FT-IR ...

    journal_title：International journal of legal medicine

    pub_type： 杂志文章

    doi：10.1007/s00414-020-02333-w

    authors： Sharma S,Singh R

    更新日期：2020-09-01 00:00:00

  • Fatality following a suicidal overdose with varenicline.

    abstract：:The smoking cessation agent varenicline acts as a partial agonist on α(4)β(2) nicotinic acetylcholine receptors. Although debated, several reports have linked varenicline therapy to an increased risk of suicidal thoughts and/or suicide. In addition, several non-fatal overdose cases have been reported. In this report, ...

    journal_title：International journal of legal medicine

    pub_type： 杂志文章

    doi：10.1007/s00414-012-0695-5

    authors： Stove CP,De Letter EA,Piette MH,Lambert WE

    更新日期：2013-01-01 00:00:00

  • Microbial DNA fingerprinting of human fingerprints: dynamic colonization of fingertip microflora challenges human host inferences for forensic purposes.

    abstract：:Human fingertip microflora is transferred to touched objects and may provide forensically relevant information on individual hosts, such as on geographic origins, if endogenous microbial skin species/strains would be retrievable from physical fingerprints and would carry geographically restricted DNA diversity. We tes...

    journal_title：International journal of legal medicine

    pub_type： 杂志文章

    doi：10.1007/s00414-009-0352-9

    authors： Tims S,van Wamel W,Endtz HP,van Belkum A,Kayser M

    更新日期：2010-09-01 00:00:00

  • Sudden unexpected death in childhood due to eosinophilic myocarditis.

    abstract：:A 12-year-old boy with no previous serious medical history experienced abdominal discomfort and chest pains for 5 days and suddenly died. The autopsy revealed diffuse and extensive infiltration of eosinophils into the myocardium, with poorly formed granulomas and few fibrotic changes. The necrotic changes was so exten...

    journal_title：International journal of legal medicine

    pub_type： 杂志文章

    doi：10.1007/BF01369797

    authors： Aoki Y,Nata M,Hashiyada M,Sagisaka K

    更新日期：1996-01-01 00:00:00

  • Skeletal age estimation based on medial clavicle--a test of the method reliability.

    abstract：:In order to establish a reliable age indicator in the period when all other epiphyseal age indicators have already been inactivated, medial clavicle as the bone with the longest period of growth became the object of various investigations. However, the lack of population-specific method often made it unreliable in som...

    journal_title：International journal of legal medicine

    pub_type： 杂志文章

    doi：10.1007/s00414-012-0791-6

    authors： Milenkovic P,Djukic K,Djonic D,Milovanovic P,Djuric M

    更新日期：2013-05-01 00:00:00

  • Dental age estimation in Somali children using the Willems et al. model.

    abstract：AIM:The aim of the current study was to retrospectively collect dental panoramic radiographs from Somali children living in Finland, to use the radiographic data to develop a new age estimation model based on the model established by Willems et al. (J Forensic Sci 46(4):893-895, 2001), and to compare the age prediction...

    journal_title：International journal of legal medicine

    pub_type： 杂志文章

    doi：10.1007/s00414-018-1926-1

    authors： Metsäniitty M,Waltimo-Sirén J,Ranta H,Fieuws S,Thevissen P

    更新日期：2018-11-01 00:00:00

  • A dangerous design for a mountain bike.

    abstract：:The case of a man's death as a consequence of an accident with a mountain bike was examined. Despite only slight external injuries, a general examination revealed the existence of a rupture of the diaphragm which was the ultimate cause of death. The discussion reconstructs the way the accident occurred and briefly ana...

    journal_title：International journal of legal medicine

    pub_type： 杂志文章

    doi：10.1007/s004140100237

    authors： Alvarez-Segui M,Castello-Ponce A,Verdu-Pascual F

    更新日期：2001-12-01 00:00:00

  • MtDNA control region and RFLP data for Sicily and France.

    abstract：:The forensic application of mtDNA typing requires large databases which are regionally well defined. To further this aim, we have typed mtDNA in a sample of 111 French and 106 Sicilians. The French were typed for both hypervariable segments (HVR1 and HVR2) of the mtDNA control region, whereas the Sicilians were only t...

    journal_title：International journal of legal medicine

    pub_type： 杂志文章

    doi：10.1007/s004140000169

    authors： Cali F,Le Roux MG,D'Anna R,Flugy A,De Leo G,Chiavetta V,Ayala GF,Romano V

    更新日期：2001-01-01 00:00:00

  • Comparison of HPLC and CE for the analysis of dichlorprop in a case of intoxication.

    abstract：:A 49-year-old white male was found lying unconscious at home. He had vomited, his mouth was filled with a white foam and a pungent odour filled the room. After emergency treatment blood, urine and stomach contents were screened for drugs after acid and alkaline extraction with subsequent derivatisation and GC-MS analy...

    journal_title：International journal of legal medicine

    pub_type： 杂志文章

    doi：10.1007/s004140050080

    authors： West A,Frost M,Köhler H

    更新日期：1997-01-01 00:00:00

  • BamHI polymorphism of locus D2S44 in a West German population as revealed by VNTR probe YNH24.

    abstract：:BamHI polymorphism at the VNTR locus D2S44 was investigated, concentrating on band frequencies, mutation rate and confirmation of Mendelian inheritance. In this series 39 restriction fragments showing frequencies less than 10% could clearly be distinguished. No mutations could be observed and the Mendelian character o...

    journal_title：International journal of legal medicine

    pub_type： 杂志文章

    doi：10.1007/BF01816481

    authors： Henke L,Cleef S,Zakrzewska M,Henke J

    更新日期：1990-12-01 00:00:00

  • First Polish DNA "manhunt"--an application of Y-chromosome STRs.

    abstract：:This study presents the application of Y-chromosomal STR polymorphisms to male identification in the case of a serial rapist and woman murderer in Poland. Since August 1996 a rapist from Swinoujscie (northwest Poland) committed at least 14 rapes. In the year 2000 he brutally raped 8 young girls and murdered a 22-year-...

    journal_title：International journal of legal medicine

    pub_type： 杂志文章

    doi：10.1007/s00414-002-0320-0

    authors： Dettlaff-Kakol A,Pawlowski R

    更新日期：2002-10-01 00:00:00

  • T2 and T2∗ mapping in ex situ porcine myocardium: myocardial intravariability, temporal stability and the effects of complete coronary occlusion.

    abstract：:Diagnosis of ischaemia-related sudden cardiac death in the absence of microscopic and macroscopic ischaemic lesions remains a challenge for medical examiners. Medical imaging techniques increasingly provide support in post-mortem examinations by detecting and documenting internal findings prior to autopsy. Previous st...

    journal_title：International journal of legal medicine

    pub_type： 杂志文章

    doi：10.1007/s00414-019-02211-0

    authors： Webb B,Manninger M,Leoni M,Widek T,Dobrovnik M,Scherr D,Stollberger R,Schwark T

    更新日期：2020-03-01 00:00:00

  • Age estimation from fetus and infant tooth and head measurements.

    abstract：:Forensic identification comprises legal, social, ethical, and religious aspects where age detection is an important factor. When the case is a fetus or infant, recording various measurements of the body, head, and teeth is essential. The aim of this research is to evaluate the effects of different tooth and body measu...

    journal_title：International journal of legal medicine

    pub_type： 杂志文章

    doi：10.1007/s00414-013-0935-3

    authors： Dagalp R,Aka PS,Canturk N,Kedici I

    更新日期：2014-05-01 00:00:00

  • Impact of DNA degradation on massively parallel sequencing-based autosomal STR, iiSNP, and mitochondrial DNA typing systems.

    abstract：:Biological samples, including skeletal remains exposed to environmental insults for extended periods of time, exhibit increasing levels of DNA damage and fragmentation. Human forensic identification methods typically use a combination of mitochondrial (mt) DNA sequencing and short tandem repeat (STR) analysis, which t...

    journal_title：International journal of legal medicine

    pub_type： 杂志文章

    doi：10.1007/s00414-019-02110-4

    authors： Zavala EI,Rajagopal S,Perry GH,Kruzic I,Bašić Ž,Parsons TJ,Holland MM

    更新日期：2019-09-01 00:00:00

  • ABO blood grouping of bloodstains by sandwich ELISA using monoclonal antibody specific for human red cell band 3.

    abstract：:ABO blood grouping of human bloodstains was performed by a sandwich ELISA using a species-specific monoclonal antibody to the amino-terminal cytoplasmic domain of human red cell membrane band 3. In a blind trial, all A, B and O bloodstains (a 1 cm long thread) and AB bloodstains (a 1.5 cm long thread) were accurately ...

    journal_title：International journal of legal medicine

    pub_type： 杂志文章

    doi：10.1007/BF01642795

    authors： Kimura A,Uda T,Nakashima S,Ikeda H,Yasuda S,Osawa M,Tsuji T

    更新日期：1993-01-01 00:00:00

  • Differential gene expression during metamorphosis: a promising approach for age estimation of forensically important Calliphora vicina pupae (Diptera: Calliphoridae).

    abstract：:Necrophagous blow fly larvae can provide accurate estimates of the minimum postmortem interval in death investigations. During larval development, predictable morphological changes occur and measurements of weight, length, and width are compared to species-specific growth curves for reliable age estimates. However, ag...

    journal_title：International journal of legal medicine

    pub_type： 杂志文章

    doi：10.1007/s00414-012-0699-1

    authors： Boehme P,Spahn P,Amendt J,Zehner R

    更新日期：2013-01-01 00:00:00

  • Doppler radar velocity measurements for wound ballistics experiments.

    abstract：:Bullet velocity is a basic parameter in wound ballistics studies. It is usually measured electronically by means of a variety of solid or photoelectric barriers connected to equipment measuring the time elapsing between impulses, enabling the velocity to be calculated. With the advent of Doppler radar velocity measure...

    journal_title：International journal of legal medicine

    pub_type： 杂志文章

    doi：10.1007/BF01247266

    authors： Knudsen PJ,Svender J

    更新日期：1994-01-01 00:00:00

  • The likelihood ratio as a random variable for linked markers in kinship analysis.

    abstract：:The likelihood ratio is the fundamental quantity that summarizes the evidence in forensic cases. Therefore, it is important to understand the theoretical properties of this statistic. This paper is the last in a series of three, and the first to study linked markers. We show that for all non-inbred pairwise kinship co...

    journal_title：International journal of legal medicine

    pub_type： 杂志文章

    doi：10.1007/s00414-016-1416-2

    authors： Egeland T,Slooten K

    更新日期：2016-11-01 00:00:00

  • Sequence variation of a hypervariable short tandem repeat at the D1S1656 locus.

    abstract：:A short tandem repeat at the D1S1656 locus was sequenced in 45 selected alleles and 13 different alleles were found which were designated according to the total number of repeats. This STR is a compound hypervariable STR consisting of blocks of (TAGR) repeats with a basic sequence structure (TAGA)4(TGA)0-1(TAGA)6-16(T...

    journal_title：International journal of legal medicine

    pub_type： 杂志文章

    doi：10.1007/s004140050161

    authors： Lareu MV,Barral S,Salas A,Pestoni C,Carracedo A

    更新日期：1998-01-01 00:00:00

  • Insertion-deletion polymorphisms--utilization on forensic analysis.

    abstract：:Insertion-deletion (INDEL) markers are very frequent in the human genome and present several advantages for population and forensic studies, such as low mutation rates, easy interpretation, small amplicons, easy genotyping, and the possibility of using multiplex PCR. The great adaptability of INDELs for amplification ...

    journal_title：International journal of legal medicine

    pub_type： 杂志文章

    doi：10.1007/s00414-011-0588-z

    authors： da Costa Francez PA,Rodrigues EM,de Velasco AM,dos Santos SE

    更新日期：2012-07-01 00:00:00

  • miRNA analysis in vitreous humor to determine the time of death: a proof-of-concept pilot study.

    abstract：:We hypothesized that miRNAs present in vitreous humor could be a sort of "biological black box," storing information about physiological and environmental circumstances at death. As a proof of concept, we analyzed the vitreous humor miRNA signature to explore its forensic potential applications, such as determining th...

    journal_title：International journal of legal medicine

    pub_type： 杂志文章

    doi：10.1007/s00414-012-0811-6

    authors： Odriozola A,Riancho JA,de la Vega R,Agudo G,García-Blanco A,de Cos E,Fernández F,Sañudo C,Zarrabeitia MT

    更新日期：2013-05-01 00:00:00

  • Superimposition technique for skull identification with Afloat® software.

    abstract：:The craniofacial superimposition technique is still an important way of identifying skulls when there is no reference sample for a forensic DNA analysis, when DNA typing from remaining tissue samples has failed, or when antemortem dental records are not available. Through the widespread use of digital photography, the...

    journal_title：International journal of legal medicine

    pub_type： 杂志文章

    doi：10.1007/s00414-010-0494-9

    authors： Birngruber CG,Kreutz K,Ramsthaler F,Krähahn J,Verhoff MA

    更新日期：2010-09-01 00:00:00

  • Identification of human remains using Rapid DNA analysis.

    abstract：:Rapid identification of human remains following mass casualty events is essential to bring closure to family members and friends of the victims. Unfortunately, disaster victim identification, missing persons identification, and forensic casework analysis are often complicated by sample degradation due to exposure to h...

    journal_title：International journal of legal medicine

    pub_type： 杂志文章

    doi：10.1007/s00414-019-02186-y

    authors： Turingan RS,Brown J,Kaplun L,Smith J,Watson J,Boyd DA,Steadman DW,Selden RF

    更新日期：2020-05-01 00:00:00

  • Short tandem repeat HumACTBP2 (SE33) and HumVWA: population genetic study on a north Italian population.

    abstract：:Allele frequencies at the short tandem repeat (STR) loci HumACTBP2 and HumVWA were determined in 118 unrelated individuals from Northern Italy (Milan area). For locus HumACTBP2 (SE33) a total of 39 alleles was observed. Furthermore, two interalleles (N18m+N19m) and one allele (> N35) were found which were not observed...

    journal_title：International journal of legal medicine

    pub_type： 杂志文章

    doi：10.1007/s004140050090

    authors： Piccinini A,Waterkamp K,Meyer E

    更新日期：1997-01-01 00:00:00

  • The pharmacology and toxicology of kratom: from traditional herb to drug of abuse.

    abstract：:Mitragyna speciosa (Rubiaceae), commonly known as kratom, is a tropical tree with a long history of traditional use in parts of Africa and Southeast Asia. In recent years, kratom has gained popularity for use as a recreational drug across the globe. Relatively new to the illicit market and used in a manner different f...

    journal_title：International journal of legal medicine

    pub_type： 杂志文章,评审

    doi：10.1007/s00414-015-1279-y

    authors： Warner ML,Kaufman NC,Grundmann O

    更新日期：2016-01-01 00:00:00