Short tandem repeats are the gold standard for human identification but are not informative for forensic DNA phenotyping (FDP). Single-nucleotide polymorphisms (SNPs) as genetic markers can be applied to both identification and FDP. The concept of DNA intelligence emerged with the potential for SNPs to infer biogeographical ancestry (BGA) and externally visible characteristics (EVCs), which together enable the FDP process. For more than a decade, the SNaPshot technique has been utilised to analyse identity and FDP-associated SNPs in forensic DNA analysis. SNaPshot is a single-base extension (SBE) assay with capillary electrophoresis as its detection system. This multiplexing technique offers the advantage of easy integration into operational forensic laboratories without the requirement for any additional equipment. Further, the SNP panels from SNaPshot assays can be incorporated into customised panels for massively parallel sequencing (MPS). Many SNaPshot assays are available for identity, BGA and EVC profiling with examples including the well-known SNPforID 52-plex identity assay, the SNPforID 34-plex BGA assay and the HIrisPlex EVC assay. This review lists the major forensically relevant SNaPshot assays for human DNA SNP analysis and can be used as a guide for selecting the appropriate assay for specific identity and FDP applications.
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http://dx.doi.org/10.1007/s00414-016-1490-5 | DOI Listing |
Neuroimage
December 2024
Hospital del Mar Research Institute; 08003 Barcelona, Spain; Universitat Pompeu Fabra; 08003 Barcelona, Spain; Epilepsy Unit - Neurology Dept. Hospital del Mar; 08003 Barcelona, Spain.
The rate of success of epilepsy surgery, ensuring seizure-freedom, is limited by the lack of epileptogenicity biomarkers. Previous evidence supports the critical role of functional connectivity during seizure generation to characterize the epileptogenic network (EN). However, EN dynamics is highly variable across patients, hindering the development of diagnostic biomarkers.
View Article and Find Full Text PDFCurr Probl Cancer
December 2024
Department of Biotechnology, Indian Institute of Technology Madras, Chennai, Tamil Nadu, India. Electronic address:
This comprehensive review explores the transformative potential of PROTAC (Proteolysis-Targeting Chimeras) therapy as a groundbreaking approach in the landscape of lung cancer treatment. The introduction provides a succinct overview of current challenges in lung cancer treatment, emphasizing the significance of targeted therapies. Focusing on PROTAC therapy, the article elucidates its mechanism of action, comparing it with traditional targeted therapies and highlighting the key components and design principles of PROTAC molecules.
View Article and Find Full Text PDFHead Neck
December 2024
Head and Neck Unit, The Royal Marsden Hospital, London, UK.
Background: To investigate the management of recurrent head and neck squamous cell carcinoma (rHNSCC) and describe survival outcomes.
Methods: Post hoc subgroup analysis of a retrospective national observational cohort was conducted. All patients with rHNSCC who received a definitive treatment decision between September 1, 2021 and November 30, 2021 were included.
Methods Mol Biol
December 2024
The Centre for Crop and Disease Management, Curtin University, Bentley, WA, Australia.
The biochemical makeup of any organism provides insight into key factors regarding its biological functions. These factors can be explored using proteomics, which allows us to obtain a snapshot of the protein content and abundance in an organism, cell type or sub-cellular compartment. Here, we describe proteomic methodologies that can be used to dissect the biochemical mechanism of phytopathogenicity in oomycetes.
View Article and Find Full Text PDFJ Pers Med
November 2024
Healthpoint Hospital, Abu Dhabi 112308, United Arab Emirates.
Primary biliary cholangitis (PBC) is an autoimmune chronic cholestatic disease of the liver that symptomatically can present with pruritus and fatigue. Its established first- and second-line therapies are ursodeoxycholic acid (UDCA) and obeticholic acid (OCA) although they provide limited symptom management. Liver transplantation offers a potentially curative therapeutic option in refractory cases progressing to cirrhosis.
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