Högskolan i Skövde

his.sePublikasjoner
Endre søk
RefereraExporteraLink to record
Permanent link

Direct link
Referera
Referensformat
  • apa
  • apa-cv
  • ieee
  • modern-language-association-8th-edition
  • vancouver
  • Annet format
Fler format
Språk
  • de-DE
  • en-GB
  • en-US
  • fi-FI
  • nn-NO
  • nn-NB
  • sv-SE
  • Annet språk
Fler språk
Utmatningsformat
  • html
  • text
  • asciidoc
  • rtf
Optimisation of ForenSeq STR data analysis with FDSTools and comparative analysis with UAS
Högskolan i Skövde, Institutionen för biovetenskap.
2021 (engelsk)Independent thesis Advanced level (degree of Master (Two Years)), 30 poäng / 45 hpOppgave
Abstract [en]

DNA profiling with short tandem repeat data generated with massively parallel sequencing is associated with several challenges. FDSTools is an open-source software which applies correction models based on a reference database to correct DNA profiles. The correction models aim to provide an accurate representation of the true DNA profile and associated artefacts. Low analytical thresholds in FDSTools are suggested to improve detection of minor profiles in complex mixtures. The objective was to optimise FDSTools analysis for ForenSeq data, and to establish a Swedish reference database. The FDSTools analysis was subsequently compared to default analysis with the commercial Universal Analysis Software, and the likelihood ratio was evaluated. The FDSTools Library file was adapted for ForenSeq data. FASTQ files from single- and mixed-source samples were analysed with the software. The concordance between the software was assessed, and analytical thresholds in FDSTools were optimised. Likelihood ratios were calculated for sequencing- and capillary electrophoresis data to investigate the benefit of sequence level information. A reference database and correction models could not be generated, meaning that uncorrected data was used. The two software showed a 98.5% concordance. Disconcordance was caused by allele drop-out in heterozygous loci which implicated that certain markers may require individual interpretation. Lowering the analytical thresholds in FDSTools appeared to improve mixture deconvolution, but the lack of correction models obscured interpretation. Hence, without correction models optimial analytical thresholds could not be defined. Likelihood ratio based on sequencing data was not consistently higher compared to capillary electrophoresis, suggesting that sequence information is not always advantageous.

sted, utgiver, år, opplag, sider
2021. , s. 38
HSV kategori
Identifikatorer
URN: urn:nbn:se:his:diva-20053OAI: oai:DiVA.org:his-20053DiVA, id: diva2:1575283
Eksternt samarbeid
Nationellt Forensiskt Centrum (NFC)
Fag / kurs
Systems Biology
Utdanningsprogram
Biomarkers in Molecular Medicine - Master's Programme 120 ECTS
Veileder
Examiner
Tilgjengelig fra: 2021-06-29 Laget: 2021-06-29 Sist oppdatert: 2025-09-29bibliografisk kontrollert

Open Access i DiVA

fulltext(1727 kB)398 nedlastinger
Filinformasjon
Fil FULLTEXT01.pdfFilstørrelse 1727 kBChecksum SHA-512
a161de8ea224a84e8e9fbf591feda9c7938c3a5bb8cc67449d4a39a8e8f2613016c37153f42e8ed99893e7f368b28aea5520878a5153038f733472fb8367f29d
Type fulltextMimetype application/pdf

Av organisasjonen

Søk utenfor DiVA

GoogleGoogle Scholar
Totalt: 400 nedlastinger
Antall nedlastinger er summen av alle nedlastinger av alle fulltekster. Det kan for eksempel være tidligere versjoner som er ikke lenger tilgjengelige

urn-nbn

Altmetric

urn-nbn
Totalt: 610 treff
RefereraExporteraLink to record
Permanent link

Direct link
Referera
Referensformat
  • apa
  • apa-cv
  • ieee
  • modern-language-association-8th-edition
  • vancouver
  • Annet format
Fler format
Språk
  • de-DE
  • en-GB
  • en-US
  • fi-FI
  • nn-NO
  • nn-NB
  • sv-SE
  • Annet språk
Fler språk
Utmatningsformat
  • html
  • text
  • asciidoc
  • rtf