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Benchmarking whole exome sequencing in the German network for personalized medicine.
Eur J Cancer
November 2024
Institute of Pathology, Heidelberg University Hospital, Heidelberg, Germany; Centers for Personalized Medicine (ZPM), Germany; Translational Lung Research Center Heidelberg (TLRC), Member of the German Center for Lung Research (DZL), Heidelberg, Germany; German Cancer Consortium (DKTK), Germany. Electronic address:
Article Synopsis
- Whole Exome Sequencing (WES) is a powerful tool in cancer diagnostics that allows for comprehensive analysis of genes, improving the detection of complex biomarkers compared to traditional panel-based methods.
- A study analyzing tissue specimens across 21 NGS centers showed that, although there was a 76% agreement in somatic variant calling, refining filtering criteria improved this to 88%, highlighting the importance of filter settings in variant detection.
- The reliability of detecting specific genomic changes (like CNAs and complex biomarkers) varied among labs, emphasizing the need for improved bioinformatics processes and collaborative testing to minimize discrepancies in future analyses.
A sex chromosome polymorphism maintains divergent plumage phenotypes between extensively hybridizing yellowhammers (Emberiza citrinella) and pine buntings (E. leucocephalos).
Mol Ecol
October 2024
Department of Zoology, and Biodiversity Research Centre, University of British Columbia, Vancouver, British Columbia, Canada.
Article Synopsis
- Under allopatric speciation, species are isolated by geographic barriers, leading to genetic changes and potential reproductive isolation.
- The yellowhammer and pine bunting diverged during the Pleistocene but have shown weak reproductive barriers, as evidenced by extensive hybridization in their overlapping regions of Siberia.
- Genomic analysis indicates that admixture is significant, suggesting that the two species might either continue to differentiate or merge, while also revealing a genetic inversion linked to plumage variation that could preserve these differences even if they do merge.
Cell-free DNA from ascites identifies clinically relevant variants and tumour evolution in patients with advanced ovarian cancer.
Mol Oncol
November 2024
Gynaecological Cancer Research Group, School of Clinical Medicine, Faculty of Medicine and Health, University of New South Wales, Sydney, Australia.
The emergence of targeted therapies has transformed ovarian cancer treatment. However, biomarker profiling for precision medicine is limited by access to quality, tumour-enriched tissue samples. The use of cell-free DNA (cfDNA) in ascites presents a potential solution to this challenge.
View Article and Find Full Text PDFThe genes and are involved in zinc tolerance of .
Appl Environ Microbiol
June 2024
Department of Infectious Diseases, Division of Nosocomial Pathogens and Antibiotic Resistances, Robert Koch Institute, Wernigerode, Germany.
Unlabelled: Metals are essential for all living organisms, but the type of metal and its concentration determines its action. Even low concentrations of metals may have toxic effects on organisms and therefore exhibit antimicrobial activities. In this study, we investigate the evolutionary adaptation processes of to metals and common genes for metal tolerance.
View Article and Find Full Text PDFPredictors of Loss of Ambulation in Duchenne Muscular Dystrophy: A Systematic Review and Meta-Analysis.
J Neuromuscul Dis
May 2024
Department of Neuropediatrics and Muscle Disorders, Medical Center, University of Freiburg, Faculty of Medicine, Freiburg, Germany.
Objective: The objective of this study was to describe predictors of loss of ambulation in Duchenne muscular dystrophy (DMD).
Methods: This systematic review and meta-analysis included searches of MEDLINE ALL, Embase, and the Cochrane Database of Systematic Reviews from January 1, 2000, to December 31, 2022, for predictors of loss of ambulation in DMD. Search terms included "Duchenne muscular dystrophy" as a Medical Subject Heading or free text term, in combination with variations of the term "predictor".
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