Genotyping by sequencing (GBS) is an emerging technology to rapidly call an abundance of Single Nucleotide Polymorphisms (SNPs) using genome sequencing technology. Several different methodologies and approaches have recently been established, most of these relying on a specific preparation of data. Here we describe our GBS-pipeline, which uses high coverage reads from two parents and low coverage reads from their double haploid offspring to call SNPs on a large scale. The upside of this approach is the high resolution and scalability of the method.
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http://dx.doi.org/10.1007/978-1-4939-3167-5_16 | DOI Listing |
Brain Behav
January 2025
Department of Neurology, Sichuan Taikang Hospital, Chengdu, Sichuan, China.
Background: Previous studies have confirmed the significant role of cathepsins in the development of neurodegenerative diseases. We aimed to determine whether genetically predicted 10 cathepsins may have a causal effect on Alzheimer's disease (AD), Parkinson's disease (PD), and amyotrophic lateral sclerosis (ALS).
Methods: We conducted a two-sample bidirectional Mendelian randomization (MR) study using publicly available data from genome-wide association study (GWAS) to assess the causal associations between 10 cathepsins and three neurodegenerative diseases, including AD, PD, and ALS.
Am J Otolaryngol
December 2024
Otolaryngology-Head and Neck Surgery, Beijing Tongren Hospital, Capital Medical University, Beijing, China; Beijing Institute of Otolaryngology, Beijing, China; Key Laboratory of Otolaryngology Head and Neck Surgery, Ministry of Education, Beijing, China. Electronic address:
Purpose: To explore how hearing changes over time and the characteristics associated with progressive hearing loss in children with enlarged vestibular aqueduct (EVA), and develop a prediction model for anticipation of hearing progression probability.
Methods: A retrospective analysis was conducted on 48 children (92 ears) diagnosed with EVA. A total of 314 audiograms were included in the analysis of hearing loss trajectories using linear mixed-effects model.
PLoS One
December 2024
Department of Epidemiology & Ministry of Education Key Laboratory of Public Health Safety, School of Public Health, Fudan University, Shanghai, China.
Studies have reported risk factors for a single-squamous cell carcinoma(Single-SCCs). However, the shared common germline genetic factors and environmental factors have not been well elucidated with respect to augmented risk of pan-squamous cell carcinoma(Pan-SCCs). By integrating a large-scale genotype data of 1,928 Pan-SCCs cases and 7,712 age- and sex-matched controls in the UK Biobank cohort, as well as multiple transcriptome and protein databases, we conducted a multi-omics analysis.
View Article and Find Full Text PDFPLoS One
December 2024
Joint Biobank, Office of Human Research, Taipei Medical University, Taipei, Taiwan.
Few studies have demonstrated the interplay between human immunodeficiency virus (HIV), anal human papillomavirus (HPV), and anal microbiota, especially in persons living with HIV who are men who have sex with men. We, therefore, explored these interrelationships in a cohort of persons living with HIV, mainly comprising men who have sex with men. HPV genotyping using a commercial genotyping kit and ThinPrep cytology interpreted by Bethesda systems was performed on samples from 291 patients.
View Article and Find Full Text PDFJ Appl Lab Med
December 2024
Laboratory of Viral Hepatitis, Oswaldo Cruz Institute, FIOCRUZ, Rio de Janeiro, Brazil.
Background: Exploring polymorphisms in vitamin D-related genes (VDR) within the Brazilian population provides a valuable model to contribute to the influence of the host genetic variants on chronic viral hepatitis B (CHB).
Methods: 126 CHB patients were enrolled in the current study and clinical, laboratory, and 25-hydroxyvitamin D [25(OD)D] level data were obtained. Four VDR (rs7975232, rs1544410, rs10735810, rs731236) and 2 vitamin D-binding protein/carrier globulin (GC) polymorphisms (rs4588 and rs7041) were determined using TaqMan assays and nucleotide sequencing.
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