Taxonomic complexities, like environmental plasticity and homoplasy, make precise identification challenging in , the genus of spiny climbing palms of the subfamily Calamoideae (Arecaceae). In the present study, the species discriminatory power of twelve potential DNA barcode regions (L, K, A-H, CBK-IF-H, Z-M, ITS1, ITS2, PRK, and RPB2) were evaluated in 21 species of from the Western Ghats region of India, using distance, tree, and similarity based statistical methods. Except for the low copy nuclear region, RPB2, none of the tested plastid loci or nuclear loci ITS, either singly or in combinations, could discriminate all the species of due to low substitution rate of plastid regions and multiple copies of ITS respectively. The RPB2 locus showed highest species resolution with 96% accuracy in similarity based analysis, indicating its potential and efficiency as a barcode locus for the genus. The putative " complex" based on overlapping morphology was successfully resolved as six distinct, though closely related, species. The analysis also indicates that is a morphological variant of In spite of being a low copy nuclear gene region, RPB2 provided an efficient barcode to delineate species and has the potential to further extend its use as a prospective barcode to other Palm genera.
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http://dx.doi.org/10.1007/s12298-020-00864-5 | DOI Listing |
Genome Res
January 2025
University Medical Center Utrecht, Utrecht University, Oncode Institute, Cyclomics
Shallow genome-wide cell-free DNA (cfDNA) sequencing holds great promise for non-invasive cancer monitoring by providing reliable copy number alteration (CNA) and fragmentomic profiles. Single nucleotide variations (SNVs) are, however, much harder to identify with low sequencing depth due to sequencing errors. Here we present Nanopore Rolling Circle Amplification (RCA)-enhanced Consensus Sequencing (NanoRCS), which leverages RCA and consensus calling based on genome-wide long-read nanopore sequencing to enable simultaneous multimodal tumor fraction estimation through SNVs, CNAs, and fragmentomics.
View Article and Find Full Text PDFChanges in the copy number of large genomic regions, termed copy number variations (CNVs), contribute to important phenotypes in many organisms. CNVs are readily identified using conventional approaches when present in a large fraction of the cell population. However, CNVs that are present in only a few genomes across a population are often overlooked but important; if beneficial under specific conditions, a de novo CNV that arises in a single genome can expand during selection to create a larger population of cells with novel characteristics.
View Article and Find Full Text PDFbioRxiv
December 2024
Rutherford Appleton Laboratory, Research Complex at Harwell, Didcot, Oxfordshire, UK.
Conjugation, the major driver of the spread of antimicrobial resistance genes, relies on a conjugation pilus for DNA transfer. Conjugative pili, such as the F-pilus, are dynamic tubular structures, composed of a polymerized pilin, that mediate the initial donor-recipient interactions, a process known as mating pair formation (MPF). IncH are low-copy-number plasmids, traditionally considered broad host range, which are found in bacteria infecting both humans and animals.
View Article and Find Full Text PDFAtheroscler Plus
March 2025
Department of Laboratory Medicine, Faculty of Medicine and Health, Örebro University, Örebro, Sweden.
Background And Aims: Familial hypercholesterolemia (FH) and other disorders with similar features are common genetic disorders that remain underdiagnosed and undertreated, due in part to the cost of screening. The aim of this study was to design and implement a whole gene targeted NGS panel for the molecular diagnosis of FH and statin intolerance with an emphasis on high quality variant calling, including copy number analysis.
Methods: A whole gene panel for hybridisation-based short read NGS was designed for the dominant FH-genes low density lipoprotein receptor (), apolipoprotein B (APOB), proproteinconvertas subtilisin/kexin type 9 (PCSK9), apolipoprotein E (APOE) and the recessive FH-genes low density lipoprotein receptor adaptor protein 1 (), ATP binding cassette subfamily member 5/8 (ABCG5/8) and lipase A, lysosomal acid type (), as well as solute carrier organic anion transporter family member 1B1 (), not an FH gene but linked to statin intolerance.
Neurocomputing (Amst)
January 2025
Department of Electrical and Computer Engineering, University of Maryland at College Park, 8223 Paint Branch Dr, College Park, MD, 20740, USA.
Inference using deep neural networks on mobile devices has been an active area of research in recent years. The design of a deep learning inference framework targeted for mobile devices needs to consider various factors, such as the limited computational capacity of the devices, low power budget, varied memory access methods, and I/O bus bandwidth governed by the underlying processor's architecture. Furthermore, integrating an inference framework with time-sensitive applications - such as games and video-based software to perform tasks like ray tracing denoising and video processing - introduces the need to minimize data movement between processors and increase data locality in the target processor.
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