A multipurpose panel of microhaplotypes for use with STR markers in casework.

Forensic Sci Int Genet

The George Washington University, Department of Forensic Science, 2100 Foxhall Road, NW, Washington, DC 20007, United States.

Published: September 2022

A small panel of highly informative loci that can be genotyped on the same equipment as the standard CODIS short tandem repeat (STR) markers has strong potential for application in forensic casework. Single nucleotide polymorphisms (SNPs) can be typed by a couple of methods on capillary electrophoresis (CE) machines and on sequencers, but the amount of information relative to the laboratory effort has hindered use of SNPs in actual casework. Insertion-deletion markers (InDels) suffer from similar problems. Microhaplotypes (MHs) are much more informative per locus but have similar technical difficulties unless they are typed by massively parallel sequencing (MPS). As forensic labs are acquiring sequencing machines, MHs become more likely to be used in casework, especially if multiplexed with STRs. Here we present the details of a multipurpose panel of 24 MHs with the highest effective number of alleles (A) from previous work. An augmented STR panel of 24 loci (20 CODIS markers plus four commonly typed STRs) is also considered. The A and ancestry informativeness (I) distributions of these two datasets are compared. The MH panel is shown to have better individualization and population distinction than the augmented CODIS STRs. We note that the 24 MHs should be better for mixture analyses than the STRs. Finally, we suggest that a commercial kit including both the standard CODIS markers and this set of 24 MH would greatly improve the discrimination power over that of current commercial assays.

Download full-text PDF

Source
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC11071123PMC
http://dx.doi.org/10.1016/j.fsigen.2022.102729DOI Listing

Publication Analysis

Top Keywords

multipurpose panel
8
str markers
8
standard codis
8
codis markers
8
markers
5
panel microhaplotypes
4
microhaplotypes str
4
casework
4
markers casework
4
casework small
4

Similar Publications

Background: Due to its previously illicit nature, Cannabis sativa had not fully reaped the benefits of recent innovations in genomics and plant sciences. However, Canada's legalization of C. sativa and products derived from its flower in 2018 triggered significant new demand for robust genotyping tools to assist breeders in meeting consumer demands.

View Article and Find Full Text PDF

Structural plasticity of the coiled-coil interactions in human SFPQ.

Nucleic Acids Res

January 2025

School of Molecular Sciences, The University of Western Australia, 35 Stirling Highway, Crawley, Western Australia 6009, Australia.

The proteins SFPQ (splicing Factor Proline/Glutamine rich) and NONO (non-POU domain-containing octamer-binding protein) are mammalian members of the Drosophila Behaviour/Human Splicing (DBHS) protein family, which share 76% sequence identity in their conserved 320 amino acid DBHS domain. SFPQ and NONO are involved in all steps of post-transcriptional regulation and are primarily located in mammalian paraspeckles: liquid phase-separated, ribonucleoprotein sub-nuclear bodies templated by NEAT1 long non-coding RNA. A combination of structured and low-complexity regions provide polyvalent interaction interfaces that facilitate homo- and heterodimerisation, polymerisation, interactions with oligonucleotides, mRNA, long non-coding RNA, and liquid phase-separation, all of which have been implicated in cellular homeostasis and neurological diseases including neuroblastoma.

View Article and Find Full Text PDF

International external quality assessment study for detection of monkeypox virus by PCR supporting laboratory preparedness during the 2022-2023 mpox outbreak and beyond.

J Clin Virol

December 2024

The University of Groningen, University Medical Center Groningen, Division of Clinical Virology, Department of Medical Microbiology and Infection Prevention, Groningen, the Netherlands.

Background: Diagnostic capabilities and correspondent External Quality Assessments (EQA) are key for outbreak preparedness. To support diagnostic facilities with a quality assessment of newly established monkeypox virus (MPXV) molecular diagnostic workflows, Quality Control for Molecular Diagnostics (QCMD) and the Bundeswehr Institute of Microbiology (IMB) piloted an international EQA study conducting four challenges from autumn 2022 to summer 2023 during the global mpox outbreak.

Objectives: To assess the performance (sensitivity/specificity) of molecular assays used by diagnostic laboratories.

View Article and Find Full Text PDF

Sensitive and modular amplicon sequencing of diversity and resistance for research and public health.

bioRxiv

August 2024

EPPIcenter Research Program, Division of HIV, Infectious Diseases, and Global Medicine, Department of Medicine, University of California, San Francisco, California, USA.

Targeted amplicon sequencing is a powerful and efficient tool to interrogate the genome and generate actionable data from infections to complement traditional malaria epidemiology. For maximum impact, genomic tools should be multi-purpose, robust, sensitive and reproducible. We developed, characterized, and implemented MADHatTeR, an amplicon sequencing panel based on Multiplex Amplicons for Drug, Diagnostic, Diversity, and Differentiation Haplotypes using Targeted Resequencing, along with a bioinformatic pipeline for data analysis.

View Article and Find Full Text PDF

Silybum marianum (L.) Gaertn. is a multipurpose crop native to the Mediterranean and middle east regions and mainly known for the hepatoprotective properties of fruit-derived silymarin.

View Article and Find Full Text PDF

Want AI Summaries of new PubMed Abstracts delivered to your In-box?

Enter search terms and have AI summaries delivered each week - change queries or unsubscribe any time!