Forensic tri-allelic SNP genotyping using nanopore sequencing

被引：25

作者：

Cornelis, Senne ^{[1
,2
]}

Gansemans, Yannick ^{[1
]}

Vander Plaetsen, Ann-Sophie ^{[1
]}

Weymaere, Jana ^{[1
]}

Willems, Sander ^{[1
]}

Deforce, Dieter ^{[1
]}

Van Nieuwerburgh, Filip ^{[1
]}

机构：

[1] Univ Ghent, Lab Pharmaceut Biotechnol, B-9000 Ghent, Belgium

[2] IMEC, Dept Life Sci & Imaging, B-3001 Leuven, Belgium

来源：

FORENSIC SCIENCE INTERNATIONAL-GENETICS | 2019年 / 38卷

关键词：

Forensic; SNP; Next generation sequencing; Oxford nanopore technologies; MinION; SINGLE NUCLEOTIDE POLYMORPHISMS; TANDEM REPEAT LOCI; IDENTIFICATION; UTILITY; ASSAY;

D O I：

10.1016/j.fsigen.2018.11.012

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

The potential and current state-of-the-art of forensic SNP genotyping using nanopore sequencing was investigated with a panel of 16 tri-allelic single nucleotide polymorphisms (SNPs), multiplexing five samples per sequencing run. The sample set consisted of three single-source human genomic reference control DNA samples and two GEDNAP samples, simulating casework samples. The primers for the multiplex SNP-loci PCR were taken from a study which researched their value in a forensic setting using conventional single-base extension technology. Workflows for multiplexed Oxford Nanopore Technologies 1D and 1D(2) sequencing were developed that provide correct genotyping of most SNP loci. Loci that are problematic for nanopore sequencing were characterized. When such loci are avoided, nanopore sequencing of forensic tri-allelic SNPs is technically feasible.

引用

页码：204 / 210

页数：7

共 34 条

[1] European survey on forensic applications of massively parallel sequencing
Alonso, Antonio
Mueller, Petra
Roewer, Lutz
Willuweit, Sascha
Budowle, Bruce
Parson, Walther
[J]. FORENSIC SCIENCE INTERNATIONAL-GENETICS, 2017, 29 : E23 - E25
[2] [Anonymous], PRECISION ID NGS SYS
[3] Nanopore Sequencing: From Imagination to Reality
Bayley, Hagan
[J]. CLINICAL CHEMISTRY, 2015, 61 (01) : 25 - 31
[4] Next generation sequencing and its applications in forensic genetics
Borsting, Claus
Morling, Niels
[J]. FORENSIC SCIENCE INTERNATIONAL-GENETICS, 2015, 18 : 78 - 89
[5] Forensically relevant SNP classes
Budowle, Bruce
van Daal, Angela
[J]. BIOTECHNIQUES, 2008, 44 (05) : 603 - +
[6] Butler J., 2005, Forensic DNA typing: Biology, technology, and genetics of STR markers
[7] STRs vs. SNPs: Thoughts on the future of forensic DNA testing
Butler J.M.
Coble M.D.
Vallone P.M.
[J]. Forensic Science, Medicine, and Pathology, 2007, 3 (3) : 200 - 205
[8] Comparison of next generation sequencing, SNaPshot assay and real-time polymerase chain reaction for lung adenocarcinoma EGFR mutation assessment
Cernomaz, Andrei-Tudor
Macovei, Ina Iuliana
Pavel, Ionut
Grigoriu, Carmen
Marinca, Mihai
Baty, Florent
Peter, Simona
Zonda, Radu
Brutsche, Martin
Grigoriu, Bogdan-Dragos
[J]. BMC PULMONARY MEDICINE, 2016, 16
[9] Chakraborty R, 1999, ELECTROPHORESIS, V20, P1682
[10] Forensic SNP Genotyping using Nanopore MinION Sequencing
Cornelis, Senne
Gansemans, Yannick
Deleye, Lieselot
Deforce, Dieter
Van Nieuwerburgh, Filip
[J]. SCIENTIFIC REPORTS, 2017, 7

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