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The storage of greater numbers of exomes or genomes raises the question of loss of privacy for the individual and for families if genomic data are not properly protected. Access to genome data may result from a personal decision to disclose, or from gaps in protection. In either case, revealing genome data has consequences beyond the individual, as it compromises the privacy of family members. Increasing availability of genome data linked or linkable to metadata through online social networks and services adds one additional layer of complexity to the protection of genome privacy. The field of computer science and information technology offers solutions to secure genomic data so that individuals, medical personnel or researchers can access only the subset of genomic information required for healthcare or dedicated studies.
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http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4168742 | PMC |
http://dx.doi.org/10.12688/f1000research.3817.1 | DOI Listing |
Zhonghua Er Ke Za Zhi
March 2025
Department of Pediatrics, First Affiliated Hospital of Xi'an Jiaotong University, Xi'an 710061, China.
To analyze a novel intronic variant in the SPTB gene and explore its effect on SPTB mRNA splicing. Clinical data of a child diagnosed with hereditary spherocytosis (HS) and admitted to the First Affiliated Hospital of Xi'an Jiaotong University in February 2022 were analyzed retrospectively. Whole genome sequencing was used to identify disease-causing mutations and the results were validated with Sanger sequencing, mRNA sequencing was used to determine the SPTB gene's mRNA expression level, and bioinformatics tools were used for splicing site prediction and analysis.
View Article and Find Full Text PDFZhonghua Er Ke Za Zhi
March 2025
Department of Endocrinology, Children's Hospital Affiliated to Capital Institute of Pediatrics, Beijing 100020, China.
To analyze the clinical and genetic characteristics of children diagnosed with Noonan-syndrome associated with loose anagen hair(NS-LAH). A retrospective analysis was conducted on the clinical data of 5 children diagnosed with NS-LAH by the Endocrinology Department of the Capital Institute of Pediatrics from January 2018 to June 2024. This analysis encompassed the patients' demographic information, clinical manifestations, distinguishing features, treatment regimens, and prognostic outcomes to elucidate their clinical characteristics.
View Article and Find Full Text PDFEndocr Pract
March 2025
Department of Family Medicine, School of Medicine, College of Medicine, Taipei Medical University, Taipei, Taiwan; Department of Family Medicine, Wan Fang Hospital, Taipei Medical University, Taipei, Taiwan; Nutrition Research Center, Taipei Medical University Hospital, Taipei, Taiwan. Electronic address:
Objectives: To investigate the factors in early life that may contribute to central precocious puberty (CPP) METHODS: The study utilized data from the Taiwan Puberty Longitudinal Study (TPLS), including 2,241 children under pubertal assessment and a questionnaire of risk factors. We analyzed associations using Fitting Generalized Linear Models in R.
Results: Among the 2,241 children examined, 745 had CPP.
J Parasitol
March 2025
Jiann-Ping Hsu College of Public Health, Georgia Southern University, Statesboro, Georgia 30458.
Many human infections are transmitted through contact with household pets. The purpose of this cross-sectional study was to determine the occurrence of ticks and fleas on pets (dogs and cats) in local veterinary clinics in Statesboro, Georgia. We screened ectoparasites for Rickettsia and Bartonella and assessed owner knowledge and practices related to tick- and flea-borne diseases.
View Article and Find Full Text PDFClin Teach
April 2025
Mike Petryk School of Dentistry, Faculty of Medicine & Dentistry, College of Health Sciences, University of Alberta, Alberta, Canada.
Background: Recent advancements in precision medicine and precision dentistry have necessitated genomic literacy in healthcare professionals. Both the knowledge of genetics and data in primary biological databases are rapidly expanding beyond what is presented in textbooks. Dental students are often unfamiliar with the growing field of biological data and the tools used to analyse and interpret genetic information.
View Article and Find Full Text PDFEnter search terms and have AI summaries delivered each week - change queries or unsubscribe any time!