Novel high-throughput (Deep) sequencing technology methods have redefined the way genome sequencing is performed. They are able to produce tens of millions of short sequences (reads) in a single experiment and with a much lower cost than previous sequencing methods. In this paper, we present a new algorithm for addressing the problem of efficiently mapping millions of short reads to a reference genome. In particular, we define and solve the Massive Approximate Pattern Matching problem for mapping short sequences to a reference genome.
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http://dx.doi.org/10.1007/978-1-4419-5913-3_45 | DOI Listing |
J Chem Inf Model
January 2025
Department of Grain Science and Industry, Kansas State University, Manhattan, Kansas 66506, United States.
Cell-penetrating peptides (CPPs) are short peptides capable of penetrating cell membranes, making them valuable for drug delivery and intracellular targeting. Accurate prediction of CPPs can streamline experimental validation in the lab. This study aims to assess pretrained protein language models (pLMs) for their effectiveness in representing CPPs and develop a reliable model for CPP classification.
View Article and Find Full Text PDFMol Ecol
January 2025
Department of Biology, Aarhus University, Aarhus C, Denmark.
Understanding interspecific introgressive hybridisation and the biological significance of introgressed variation remains an important goal in population genomics. European (Anguilla anguilla) and American eel (A. rostrata) represent a remarkable case of hybridisation.
View Article and Find Full Text PDFJBMR Plus
February 2025
Research Program for Clinical and Molecular Metabolism, Faculty of Medicine, University of Helsinki, Helsinki 00014, Finland.
Hypophosphatemic rickets is a rare bone disease characterized by short stature, bone deformities, impaired bone mineralization, and dental problems. Most commonly, hypophosphatemic rickets is caused by pathogenic variants in the X-chromosomal gene, but autosomal dominant and recessive forms also exist. We investigated a Finnish family in which the son (index, 29 yr) and mother (56 yr) had hypophosphatemia since childhood.
View Article and Find Full Text PDFFront Pediatr
January 2025
Department of Neurology, Second Affiliated Hospital of Fujian Medical University, Quanzhou, China.
Background: Whole exome sequencing (WES) technology has been increasingly used for the etiological diagnosis of fetuses with ultrasound anomalies. In this article, we report a novel deletion compound combined with a causative variant in gene leading to short-rib thoracic dysplasia 7 (SRTD7) with or without polydactyly using WES.
Methods: This study involved a Chinese fetus with clinical features of skeletal dysplasia on ultrasound imaging, in whom chromosome abnormalities and copy number variants (CNVs) were detected by chromosomal microarray analysis (CMA), and sequence variants were detected by WES.
World J Radiol
January 2025
Department of Radiology, First Faculty of Medicine, Charles University and General University Hospital in Prague, Prague 12808, Czech Republic.
Background: Whole-body magnetic resonance imaging (wbMRI) allows general assessment of systemic cancers including lymphomas without radiation burden.
Aim: To evaluate the diagnostic performance of wbMRI in the staging of diffuse large B-cell lymphoma (DLBCL), determine the value of individual MRI sequences, and assess patients' concerns with wbMRI.
Methods: In this single-center prospective study, adult patients newly diagnosed with systemic DLBCL underwent wbMRI on a 3T scanner [diffusion weighted images with background suppression (DWIBS), T2, short tau inversion recovery (STIR), contrast-enhanced T1] and fluorodeoxyglucose (F-FDG) positron emission tomography/computed tomography (PET/CT) (reference standard).
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