FDSTools: A software package for analysis of massively parallel sequencing data with the ability to recognise and correct STR stutter and other PCR or sequencing noise

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• 作者：Jerry Hoogenboom^a ; ^b ; ¹ ; ^{j.hoogenboom@nfi.minvenj.nl} ; Kristiaan J. van der Gaag^a ; ^b ; ¹ ; ^{k.van.der.gaag@nfi.minvenj.nl} ; Rick H. de Leeuw^a ; ^{r.h.de_leeuw@lumc.nl} ; Titia Sijen^b ; ^{t.sijen@nfi.minvenj.nl} ; Peter de Knijff^a ; ^{p.de_knijff@lumc.nl} ; Jeroen F.J. Laros^a ; ^{j.f.j.laros@lumc.nl}
• 关键词：Forensic science ; Next generation sequencing ; Massively parallel sequencing ; Short tandem repeat ; Powerseq ; FDSTools ; Software
• 刊名：Forensic Science International: Genetics
• 出版年：2017
• 出版时间：March 2017
• 年：2017
• 卷：27
• 期：Complete
• 页码：27-40
• 全文大小：2827 K
• 卷排序：27

文摘

FDSTools facilitates characterisation and correction of systemic noise in MPS data. Automatic threshold-based allele calling facilitates analysis of mixed samples. 450 reference samples and 31 mixtures were analysed with the Powerseq™ Auto System. FDSTools substantially reduced allele drop-in in mixtures with a 5% minor component. After noise correction, PCR hybrid artefacts exceeded remaining stutter in mixtures.