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Genome sequencing technology has advanced at a rapid pace and it is now possible to generate highly-detailed genotypes inexpensively. The collection and analysis of such data has the potential to support various applications, including personalized medical services. While the benefits of the genomics revolution are trumpeted by the biomedical community, the increased availability of such data has major implications for personal privacy; notably because the genome has certain essential features, which include (but are not limited to) an association with traits and certain diseases, identification capability (e.g., forensics), and revelation of family relationships. Moreover, direct-to-consumer DNA testing increases the likelihood that genome data will be made available in less regulated environments, such as the Internet and for-profit companies. The problem of genome data privacy thus resides at the crossroads of computer science, medicine, and public policy. While the computer scientists have addressed data privacy for various data types, there has been less attention dedicated to genomic data. Thus, the goal of this paper is to provide a systematization of knowledge for the computer science community. In doing so, we address some of the (sometimes erroneous) beliefs of this field and we report on a survey we conducted about genome data privacy with biomedical specialists. Then, after characterizing the genome privacy problem, we review the state-of-the-art regarding privacy attacks on genomic data and strategies for mitigating such attacks, as well as contextualizing these attacks from the perspective of medicine and public policy. This paper concludes with an enumeration of the challenges for genome data privacy and presents a framework to systematize the analysis of threats and the design of countermeasures as the field moves forward.
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http://dx.doi.org/10.1145/2767007 | 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!