Tags

Type your tag names separated by a space and hit enter

An overall limited effect on the weight-of-evidence when taking STR DNA sequence polymorphism into account in kinship analysis.
Forensic Sci Int Genet. 2019 03; 39:44-49.FS

Abstract

The recent year's development of massively parallel sequencing (MPS) instruments and assays have now made it a compatible complement to the established capillary electrophoresis (CE) analysis for different forensic genetic applications. It is well known that short tandem repeat (STR) alleles of the same fragment size could have different DNA sequences. Thus, there will be an expected increase in the population genetic diversity for the present set of forensic STRs when performing the analysis with MPS technologies and taking the internal DNA sequence into account. In order to study the additional value of this increase of information for kinship analysis casework, we set up an allele frequency database for the Swedish population for the autosomal markers included in the ForenSeq™ DNA Signature Prep Kit (Illumina). A total of 298 individuals with Swedish origin were analyzed and allele frequency distributions based on DNA sequence polymorphisms for 27 autosomal STRs were established. As expected, the results showed an addition in number of observed alleles with 55% in total compared with fragment length based allele definitions, however, a majority only appeared in a few number of observations. In addition, simulations were performed in order to study the impact of the increase in number of observed alleles for the expected likelihood ratios (LRs) for different kinship case scenarios. Only a minor increase of the LRs were, however, observed when taking allele sequence variations in addition with fragment length variations into account compared to only considering fragment length variations. Further studies are required to see if it is cost effective to implement this technique that, according to this study, only has a limited overall additive effect for kinship testing. Although, in specific cases MPS methods will increase the discrimination power due to that, even if in a low frequency, a high genetic diversity exist and the differentiation could be more significant. The establishment of the allele frequency database will enable biostatistical calculations to be performed in casework.

Authors+Show Affiliations

Department of Forensic Genetics and Forensic Toxicology, National Board of Forensic Medicine, Linköping, Sweden. Electronic address: adam.staadig@rmv.se.Department of Forensic Genetics and Forensic Toxicology, National Board of Forensic Medicine, Linköping, Sweden; Department of Clinical and Experimental Medicine, Faculty of Health Sciences, Linköping University, Linköping, Sweden.

Pub Type(s)

Journal Article

Language

eng

PubMed ID

30544009

Citation

Staadig, A, and A Tillmar. "An Overall Limited Effect On the Weight-of-evidence when Taking STR DNA Sequence Polymorphism Into Account in Kinship Analysis." Forensic Science International. Genetics, vol. 39, 2019, pp. 44-49.
Staadig A, Tillmar A. An overall limited effect on the weight-of-evidence when taking STR DNA sequence polymorphism into account in kinship analysis. Forensic Sci Int Genet. 2019;39:44-49.
Staadig, A., & Tillmar, A. (2019). An overall limited effect on the weight-of-evidence when taking STR DNA sequence polymorphism into account in kinship analysis. Forensic Science International. Genetics, 39, 44-49. https://doi.org/10.1016/j.fsigen.2018.11.020
Staadig A, Tillmar A. An Overall Limited Effect On the Weight-of-evidence when Taking STR DNA Sequence Polymorphism Into Account in Kinship Analysis. Forensic Sci Int Genet. 2019;39:44-49. PubMed PMID: 30544009.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - An overall limited effect on the weight-of-evidence when taking STR DNA sequence polymorphism into account in kinship analysis. AU - Staadig,A, AU - Tillmar,A, Y1 - 2018/11/28/ PY - 2018/05/08/received PY - 2018/10/15/revised PY - 2018/11/26/accepted PY - 2018/12/14/pubmed PY - 2019/3/15/medline PY - 2018/12/14/entrez KW - Kinship analysis KW - Massively parallel sequencing KW - Population genetics KW - STR KW - Sequence variation SP - 44 EP - 49 JF - Forensic science international. Genetics JO - Forensic Sci Int Genet VL - 39 N2 - The recent year's development of massively parallel sequencing (MPS) instruments and assays have now made it a compatible complement to the established capillary electrophoresis (CE) analysis for different forensic genetic applications. It is well known that short tandem repeat (STR) alleles of the same fragment size could have different DNA sequences. Thus, there will be an expected increase in the population genetic diversity for the present set of forensic STRs when performing the analysis with MPS technologies and taking the internal DNA sequence into account. In order to study the additional value of this increase of information for kinship analysis casework, we set up an allele frequency database for the Swedish population for the autosomal markers included in the ForenSeq™ DNA Signature Prep Kit (Illumina). A total of 298 individuals with Swedish origin were analyzed and allele frequency distributions based on DNA sequence polymorphisms for 27 autosomal STRs were established. As expected, the results showed an addition in number of observed alleles with 55% in total compared with fragment length based allele definitions, however, a majority only appeared in a few number of observations. In addition, simulations were performed in order to study the impact of the increase in number of observed alleles for the expected likelihood ratios (LRs) for different kinship case scenarios. Only a minor increase of the LRs were, however, observed when taking allele sequence variations in addition with fragment length variations into account compared to only considering fragment length variations. Further studies are required to see if it is cost effective to implement this technique that, according to this study, only has a limited overall additive effect for kinship testing. Although, in specific cases MPS methods will increase the discrimination power due to that, even if in a low frequency, a high genetic diversity exist and the differentiation could be more significant. The establishment of the allele frequency database will enable biostatistical calculations to be performed in casework. SN - 1878-0326 UR - https://www.unboundmedicine.com/medline/citation/30544009/An_overall_limited_effect_on_the_weight_of_evidence_when_taking_STR_DNA_sequence_polymorphism_into_account_in_kinship_analysis_ L2 - https://linkinghub.elsevier.com/retrieve/pii/S1872-4973(18)30267-9 DB - PRIME DP - Unbound Medicine ER -