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In-house validation of MPS-based methods in a forensic laboratory

Sidstedt, Maja LU ; Junker, Klara ; Forsberg, Christina ; Boiso, Lina ; Rådström, Peter LU ; Ansell, Ricky and Hedman, Johannes LU (2019) In Forensic Science International: Genetics Supplement Series 7(1). p.635-636
Abstract

Massively parallel sequencing (MPS) methods are increasingly applied in forensic casework. However, adequate validation guidelines are lacking. In this work, we describe our in-house validation of the ForenSeq DNA Signature Prep Kit (Verogen) for analysis of ancestry- and phenotype-informative SNPs. We also discuss in-house validation of MPS assays in general terms. When validating the SNP assay, we focused on the reliability of SNP genotype calls and the compatibility with commonly analysed sample types. Other issues, for example analytical thresholds and accuracy of the data prediction model were considered to be covered by the developmental validation of the kit. Our study included determination of (1) concordance, (2) limit of... (More)

Massively parallel sequencing (MPS) methods are increasingly applied in forensic casework. However, adequate validation guidelines are lacking. In this work, we describe our in-house validation of the ForenSeq DNA Signature Prep Kit (Verogen) for analysis of ancestry- and phenotype-informative SNPs. We also discuss in-house validation of MPS assays in general terms. When validating the SNP assay, we focused on the reliability of SNP genotype calls and the compatibility with commonly analysed sample types. Other issues, for example analytical thresholds and accuracy of the data prediction model were considered to be covered by the developmental validation of the kit. Our study included determination of (1) concordance, (2) limit of detection, (3) matrix effects, (4) repeatability, and (5) contamination risk. In conclusion, the MPS-based SNP assay showed overall adequate performance for single-source samples, with correct genotype calls. We welcome a broad discussion on how to perform in-house validation of MPS-based methods, as this is vital to ensure timely implementation of reliable assays in forensic laboratories.

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author
; ; ; ; ; and
organization
publishing date
type
Contribution to journal
publication status
published
subject
keywords
Forensic DNA phenotyping, Massively parallel sequencing (MPS), Method validation, Single nucleotide polymorphism (SNP)
in
Forensic Science International: Genetics Supplement Series
volume
7
issue
1
pages
635 - 636
publisher
Elsevier
external identifiers
  • scopus:85074418534
ISSN
1875-1768
DOI
10.1016/j.fsigss.2019.10.119
language
English
LU publication?
yes
id
a900ce91-519b-4631-8753-cf806ffdcd33
date added to LUP
2019-11-22 11:13:20
date last changed
2025-04-04 15:23:46
@article{a900ce91-519b-4631-8753-cf806ffdcd33,
  abstract     = {{<p>Massively parallel sequencing (MPS) methods are increasingly applied in forensic casework. However, adequate validation guidelines are lacking. In this work, we describe our in-house validation of the ForenSeq DNA Signature Prep Kit (Verogen) for analysis of ancestry- and phenotype-informative SNPs. We also discuss in-house validation of MPS assays in general terms. When validating the SNP assay, we focused on the reliability of SNP genotype calls and the compatibility with commonly analysed sample types. Other issues, for example analytical thresholds and accuracy of the data prediction model were considered to be covered by the developmental validation of the kit. Our study included determination of (1) concordance, (2) limit of detection, (3) matrix effects, (4) repeatability, and (5) contamination risk. In conclusion, the MPS-based SNP assay showed overall adequate performance for single-source samples, with correct genotype calls. We welcome a broad discussion on how to perform in-house validation of MPS-based methods, as this is vital to ensure timely implementation of reliable assays in forensic laboratories.</p>}},
  author       = {{Sidstedt, Maja and Junker, Klara and Forsberg, Christina and Boiso, Lina and Rådström, Peter and Ansell, Ricky and Hedman, Johannes}},
  issn         = {{1875-1768}},
  keywords     = {{Forensic DNA phenotyping; Massively parallel sequencing (MPS); Method validation; Single nucleotide polymorphism (SNP)}},
  language     = {{eng}},
  month        = {{10}},
  number       = {{1}},
  pages        = {{635--636}},
  publisher    = {{Elsevier}},
  series       = {{Forensic Science International: Genetics Supplement Series}},
  title        = {{In-house validation of MPS-based methods in a forensic laboratory}},
  url          = {{http://dx.doi.org/10.1016/j.fsigss.2019.10.119}},
  doi          = {{10.1016/j.fsigss.2019.10.119}},
  volume       = {{7}},
  year         = {{2019}},
}