The allele frequencies for eight short tandem repeat (STR) loci HUMvWA, HUMFES/FPS, HUMF13A, HUMF13B, HUMTHO1, HUMTPOX, HUMCSF1P0, HUMLPL included in Geneprint STR kits were obtained from 234 unrelated individuals in Casablanca.
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http://dx.doi.org/10.1016/s0379-0738(02)00433-4 | DOI Listing |
Am J Hum Genet
January 2025
UC Santa Cruz Genomics Institute, University of California, Santa Cruz, Santa Cruz, CA, USA. Electronic address:
More than 50% of families with suspected rare monogenic diseases remain unsolved after whole-genome analysis by short-read sequencing (SRS). Long-read sequencing (LRS) could help bridge this diagnostic gap by capturing variants inaccessible to SRS, facilitating long-range mapping and phasing and providing haplotype-resolved methylation profiling. To evaluate LRS's additional diagnostic yield, we sequenced a rare-disease cohort of 98 samples from 41 families, using nanopore sequencing, achieving per sample ∼36× average coverage and 32-kb read N50 from a single flow cell.
View Article and Find Full Text PDFMolecules
January 2025
Blood and Shock Research, US Army Institute of Surgical Research, JBSA Fort Sam Houston, San Antonio, TX 78234, USA.
Conjugation of short-chain fatty acids (SDFAs) to amines containing ring structures allows for better measurement by liquid chromatography tandem mass spectroscopy (LC-MS/MS). However, collision-induced dissociation (CID) results in breaking the conjugate back to the original SCFA and amine. We therefore set out to find an amine that would remain on the SCFA after CID and create a unique daughter for selectivity of measurement.
View Article and Find Full Text PDFBiomolecules
January 2025
Department of Biology, Norwegian University of Science and Technology, 7491 Trondheim, Norway.
Dehydrins (Dhns) are a group of intrinsically disordered land plant proteins that are closely associated with tolerance of dehydrative stress. Dhns are recognized and classified by the presence and sequence of five different conserved segments, varying in length from 8 to 15 residues, separated by highly variable disordered regions. In addition to one or more copies of the diagnostic, fifteen-residue K segment, most Dhns can be classified into one of three major groups based on the mutually exclusive presence of three other conserved segments (H, Y, or F), with all three groups typically incorporating multi-serine S segments.
View Article and Find Full Text PDFAnimals (Basel)
January 2025
State Key Laboratory of Mariculture Biobreeding and Sustainable Goods, Yellow Sea Fisheries Research Institute, Chinese Academy of Fishery Sciences, Qingdao 266071, China.
Penaeid shrimp, with its genomes enriched in short tandem repeats (STRs), presents an ideal model for studying the distribution and biological functions of STRs. In this study, we systematically identified and compared STRs across multiple species, confirming a significantly higher prevalence of STRs (26-32%) in penaeid shrimp, which is markedly higher than that observed in other species, such as mammals (1.3-2.
View Article and Find Full Text PDFJ Fungi (Basel)
January 2025
Kashkin Research Institute of Medical Mycology, North-Western State Medical University Named after I.I. Mechnikov, 191015 Saint Petersburg, Russia.
is an emerging multidrug-resistant fungal pathogen causing nosocomial transmission and invasive infections with high mortality. This study aimed to investigate the genetic relationships, enzymatic activities, and drug-resistance profiles of isolates to evaluate the population and epidemiological diversity of candidiasis in Russia. A total of 112 clinical isolates of were analyzed from May 2017 to March 2023 in 18 hospitals across Saint Petersburg, the Leningrad Region, and Moscow.
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