Massively parallel sequencing (MPS) is rapidly evolving and is starting to be utilized by the clinical field as well as diagnostics. We describe major recent advances that have come about as a result of the application of MPS in the biomedical field and the first approaches in medical genetics that have made use of MPS. Without any doubt, MPS has proven to be a very powerful technique. To unravel the capabilities of MPS for patient care, the most important aspect for the acceptance of MPS within clinics and diagnostics is to guarantee that the large amount of data undergoes vitally important analyses and interpretation and is securely managed.
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http://dx.doi.org/10.3410/B2-59 | DOI Listing |
Nat Commun
January 2025
School of Chemistry and Chemical Engineering, New Cornerstone Science Laboratory, Frontiers Science Center for Transformative Molecules, National Center for Translational Medicine, Shanghai Jiao Tong University, Shanghai, China.
Chip scale DNA synthesis offers a high-throughput and cost-effective method for large-scale DNA-based information storage. Nevertheless, unbiased information retrieval from low-copy-number sequences remains a barricade that largely arises from the indispensable DNA amplification. Here, we devise a simulation-guided quantitative primer-template hybridization strategy to realize massively parallel homogeneous amplification of chip-scale DNA for DNA information storage (MPHAC-DIS).
View Article and Find Full Text PDFPNAS Nexus
January 2025
Department of Mathematics and Statistics, University of Massachusetts Amherst, Amherst, MA 01002, USA.
Every protein progresses through a natural lifecycle from birth to maturation to death; this process is coordinated by the protein homeostasis system. Environmental or physiological conditions trigger pathways that maintain the homeostasis of the proteome. An open question is how these pathways are modulated to respond to the many stresses that an organism encounters during its lifetime.
View Article and Find Full Text PDFInt J Legal Med
January 2025
Division of Forensic Medicine and Toxicology, Department of Pathology, Faculty of Health Science, University of Cape Town, Cape Town, South Africa.
The ForenSeq™ DNA Signature Prep kit has not been thoroughly tested with crude buccal swab lysates in large-scale population studies using massively parallel sequencing (MPS). Commonly used lysis buffers for swabs intending to undergo direct polymerase chain reaction (PCR) are SwabSolution™ and STR GO! Lysis Buffers, and these have been successfully used to generate population data using capillary electrophoresis (CE) systems. In this study, we investigated the performance and optimisation of SwabSolution™ and STR GO! lysates with the ForenSeq™ DNA Signature Prep workflow and addressed the challenge of failed MPS profiles in initial trials.
View Article and Find Full Text PDFGenome-wide association studies (GWAS) of melanoma risk have identified 68 independent signals at 54 loci. For most loci, specific functional variants and their respective target genes remain to be established. Capture-HiC is an assay that links fine-mapped risk variants to candidate target genes by comprehensively mapping cell-type specific chromatin interactions.
View Article and Find Full Text PDFWater Res
December 2024
Department of Civil and Environmental Engineering, Norwegian University of Science and Technology, Trondheim, Norway. Electronic address:
The steady state of a water distribution system abides by the laws of mass and energy conservation. Hydraulic solvers, such as the one used by EPANET approach the simulation for a given topology with a Newton-Raphson algorithm. However, iterative approximation involves a matrix inversion which acts as a computational bottleneck and may significantly slow down the process.
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