Forensic SNP Genotyping using Nanopore MinION Sequencing

被引:51
作者
Cornelis, Senne [1 ]
Gansemans, Yannick [1 ]
Deleye, Lieselot [1 ]
Deforce, Dieter [1 ]
Van Nieuwerburgh, Filip [1 ]
机构
[1] Univ Ghent, Lab Pharmaceut Biotechnol, Ghent, Belgium
关键词
SINGLE NUCLEOTIDE POLYMORPHISMS; IDENTIFICATION; ASSAY;
D O I
10.1038/srep41759
中图分类号
O [数理科学和化学]; P [天文学、地球科学]; Q [生物科学]; N [自然科学总论];
学科分类号
07 ; 0710 ; 09 ;
摘要
One of the latest developments in next generation sequencing is the Oxford Nanopore Technologies' (ONT) MinION nanopore sequencer. We studied the applicability of this system to perform forensic genotyping of the forensic female DNA standard 9947 A using the 52 SNP-plex assay developed by the SNPforID consortium. All but one of the loci were correctly genotyped. Several SNP loci were identified as problematic for correct and robust genotyping using nanopore sequencing. All these loci contained homopolymers in the sequence flanking the forensic SNP and most of them were already reported as problematic in studies using other sequencing technologies. When these problematic loci are avoided, correct forensic genotyping using nanopore sequencing is technically feasible.
引用
收藏
页数:5
相关论文
共 16 条
[1]   Evaluation of the Ion Torrent™ HID SNP 169-plex: A SNP typing assay developed for human identification by second generation sequencing [J].
Borsting, Claus ;
Fordyce, Sarah L. ;
Olofsson, Jill ;
Mogensen, Helle Smidt ;
Morling, Niels .
FORENSIC SCIENCE INTERNATIONAL-GENETICS, 2014, 12 :144-154
[2]  
Butler J. M., FORENSIC SCI MED PAT
[3]   Single nucleotide polymorphism genotyping: biochemistry, protocol, cost and throughput [J].
Chen, X ;
Sullivan, PF .
PHARMACOGENOMICS JOURNAL, 2003, 3 (02) :77-96
[4]   A SNaPshot of next generation sequencing for forensic SNP analysis [J].
Daniel, R. ;
Santos, C. ;
Phillips, C. ;
Fondevila, M. ;
van Oorschot, R. A. H. ;
Carracedo, A. ;
Lareu, M. V. ;
McNevin, D. .
FORENSIC SCIENCE INTERNATIONAL-GENETICS, 2015, 14 :50-60
[5]   Analysis of artificially degraded DNA using STRs and SNPs - results of a collaborative European (EDNAP) exercise [J].
Dixon, L. A. ;
Dobbins, A. E. ;
Pulker, H. K. ;
Butler, J. M. ;
Vallone, P. M. ;
Coble, M. D. ;
Parson, W. ;
Berger, B. ;
Grubwieser, P. ;
Mogensen, H. S. ;
Morling, N. ;
Nielsen, K. ;
Sanchez, J. J. ;
Petkovski, E. ;
Carracedo, A. ;
Sanchez-Diz, P. ;
Ramos-Luis, E. ;
Brion, M. ;
Irwin, J. A. ;
Just, R. S. ;
Loreille, O. ;
Parsons, T. J. ;
Syndercombe-Court, D. ;
Schmitter, H. ;
Stradmann-Bellinghausen, B. ;
Bender, K. ;
Gill, P. .
FORENSIC SCIENCE INTERNATIONAL, 2006, 164 (01) :33-44
[6]   Inter-laboratory evaluation of SNP-based forensic identification by massively parallel sequencing using the Ion PGM™ [J].
Eduardoff, M. ;
Santos, C. ;
de la Puente, M. ;
Gross, T. E. ;
Fondevila, M. ;
Strobl, C. ;
Sobrino, B. ;
Ballard, D. ;
Schneider, P. M. ;
Carracedo, A. ;
Lareu, M. V. ;
Parson, W. ;
Phillips, C. .
FORENSIC SCIENCE INTERNATIONAL-GENETICS, 2015, 17 :110-121
[7]   An assessment of the utility of single nucleotide polymorphisms (SNPs) for forensic purposes [J].
Gill, P .
INTERNATIONAL JOURNAL OF LEGAL MEDICINE, 2001, 114 (4-5) :204-210
[8]  
Li H., 2013, Aligning sequence reads, clone sequences and assembly contigs with BWAMEM, DOI [DOI 10.48550/ARXIV.1303.3997, 10.48550/arXiv.1303.3997]
[9]   A statistical framework for SNP calling, mutation discovery, association mapping and population genetical parameter estimation from sequencing data [J].
Li, Heng .
BIOINFORMATICS, 2011, 27 (21) :2987-2993
[10]   The Sequence Alignment/Map format and SAMtools [J].
Li, Heng ;
Handsaker, Bob ;
Wysoker, Alec ;
Fennell, Tim ;
Ruan, Jue ;
Homer, Nils ;
Marth, Gabor ;
Abecasis, Goncalo ;
Durbin, Richard .
BIOINFORMATICS, 2009, 25 (16) :2078-2079