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Background: Sexual networks are difficult to construct because of incomplete sexual partner data. The proximity of people within a network may be inferred from genetically similar infections. We explored genomic data combined with partner services investigation (PSI) data to extend our understanding of sexual networks affected by Neisseria gonorrhoeae (NG).
Methods: We used 2017-2019 PSI and whole-genome sequencing (WGS) data from 8 jurisdictions participating in Centers for Disease Control and Prevention's Strengthening the US Response to Resistant Gonorrhea (SURRG) project. Clusters were identified from sexual contacts and through genetically similar NG isolates. Sexual mixing patterns were characterized by describing the clusters by the individual's gender and gender of their sex partners.
Results: Our study included 4627 diagnoses of NG infection (81% sequenced), 2455 people received a PSI, 393 people were negative contacts of cases, and 495 were contacts with an unknown NG status. We identified 823 distinct clusters using PSI data combined with WGS data. Of cases that were not linked to any other case using PSI data, 37% were linked when using WGS data. Overall, 40% of PSI cases were allocated to a larger cluster when PSI and WGS data were combined compared with PSI data alone. Mixed clusters containing women, men who report sex with women, and men who report sex with men were common when using the WGS data either alone or in combination with the PSI data.
Conclusions: Combining PSI and WGS data improves our understanding of sexual network connectivity.
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http://dx.doi.org/10.1097/OLQ.0000000000001520 | DOI Listing |
J Hum Genet
September 2025
Center for Medical Genetics, Keio University School of Medicine, Tokyo, Japan.
In standard short-read whole-exome sequencing (WES), capture probes are typically designed to target the protein-coding regions (CDS), and regions outside the exons-except for adjacent intronic sequences-are rarely sequenced. Although the majority of known pathogenic variants reside within the CDS as nonsynonymous variants, some disease-causing variants are located in regions that are difficult to detect by WES alone, such as deep intronic variants and structural variants, often requiring whole-genome sequencing (WGS) for detection. Moreover, WES has limitations in reliably identifying pathogenic variants within mitochondrial DNA or repetitive regions.
View Article and Find Full Text PDFAdv Sci (Weinh)
September 2025
Key Laboratory of Multi-Cell Systems, Shanghai Institute of Biochemistry and Cell Biology, Center for Excellence in Molecular Cell Science, Chinese Academy of Sciences, University of Chinese Academy of Sciences, Shanghai, 200031, China.
Maintaining cellular ploidy is critical for normal physiological processes, although gains in ploidy are frequently observed during development, tissue regeneration, and metabolism, and potentially contribute to aneuploidy, thereby promoting tumor evolution. Although numerous computational tools have been developed to estimate cellular ploidy from whole-genome sequencing (WGS) data at bulk or single-cell resolution, to the knowledge, no systematic comparison of their performance has been conducted. Here, a benchmarking study is presented of 11 methods for bulk WGS and 8 methods for single-cell WGS data, utilizing both experimental and simulated datasets derived from diploid cells mixed with aneuploid or polyploid cells.
View Article and Find Full Text PDFClin Microbiol Rev
September 2025
Department of Clinical Laboratory Medicine, Kyoto University Graduate School of Medicine, Kyoto, Japan.
SUMMARYAntimicrobial resistance (AMR) poses a significant threat to global public health. Surveillance is a fundamental method for controlling AMR and guiding clinical decisions, public health interventions, and policymaking. Whole-genome sequencing (WGS) provides a comprehensive and accurate understanding of AMR mechanisms, gene profiling, and transmission dynamics.
View Article and Find Full Text PDFJ Antimicrob Chemother
September 2025
US Food and Drug Administration, Center for Veterinary Medicine, Office of Applied Science, Laurel, MD, USA.
Objectives: Integrons facilitate the capture and expression of exogenous genes, including antimicrobial resistance (AMR) genes. This study aimed to detect the presence of integrons, examine their genomic structure and location, and analyse integron-associated AMR, virulence and stress response genes in Salmonella using WGS.
Methods: WGS data from 193 Salmonella strains, representing 38 serotypes isolated from food animals and related meat products (2001-2019), were analysed using bioinformatic tools to assess integron presence and characterize their genomic architectures.
Prenat Diagn
September 2025
Fetal Care and Surgery Center, Division of Fetal Medicine and Surgery, Boston Children's Hospital, Harvard Medical School, Boston, Massachusetts, USA.
Objective: This systematic review and meta-analysis aimed to assess the diagnostic yield of pathogenic or likely pathogenic (P/LP) single nucleotide variants (SNVs) using whole genome sequencing (WGS) in congenital heart disease (CHD).
Methods: A systematic search of three databases (2000-2024) was conducted, and two reviewers independently screened studies and extracted data following PRISMA and MOOSE guidelines. Pooled proportions were calculated using a random-effects model, and study quality was assessed using modified STARD criteria.