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Genetic Diversity and Mutation Frequency Databases in Ethnic Populations: Systematic Review [PDF]
JMIR Bioinformatics and BiotechnologyBackgroundNational and ethnic mutation frequency databases (NEMDBs) play a crucial role in documenting gene variations across populations, offering invaluable insights for gene mutation research and the advancement of precision medicine.
Shumaila Khan +8 more
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DisVar: an R library for identifying variants associated with diseases using large-scale personal genetic information [PDF]
PeerJ, 2023 Background Genetic variants may potentially play a contributing factor in the development of diseases. Several genetic disease databases are used in medical research and diagnosis but the web applications used to search these databases for disease ...
Khunanon Chanasongkhram +2 more
doaj +2 more sources
Prevalence estimation of ATTRv in China based on genetic databases
Frontiers in Genetics, 2023 Introduction: Amyloid transthyretin (ATTR) is divided into either hereditary (ATTRv) or sporadic (ATTRwt) and ATTRv is a rare hereditary disease transmitted as an autosomal dominant manner.
Zheng Yongsheng +7 more
doaj +1 more source
The Regulation of Human Genetic Databases in Japan
SCRIPTed: A Journal of Law, Technology & Society, 2004 Regulators drafting the legal and ethical framework of the UK Biobank Project are attempting to achieve a complex and delicate balance of interests. The regulatory structure which they devise must maximise the usefulness of the Biobank as a long-term ...
Gerard Porter
doaj +3 more sources
Indian genetic disease database [PDF]
Nucleic Acids Research, 2010 Indians, representing about one-sixth of the world population, consist of several thousands of endogamous groups with strong potential for excess of recessive diseases. However, no database is available on Indian population with comprehensive information on the diseases common in the country.
Pradhan, Sanchari +6 more
openaire +2 more sources
Attacks on genetic privacy via uploads to genealogical databases
eLife, 2020 Direct-to-consumer (DTC) genetics services are increasingly popular, with tens of millions of customers. Several DTC genealogy services allow users to upload genetic data to search for relatives, identified as people with genomes that share identical by ...
Michael D Edge, Graham Coop
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Problematizing consent: searching genetic genealogy databases for law enforcement purposes
New Genetics and Society, 2021 Genetic genealogy databases have become particularly attractive to law enforcement agencies, especially in the United States (US), which have started to employ genealogists to search them with unknown origin DNA from unidentified human remains (suicides,
G. Samuel, D. Kennett
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Advanced Genetics, 2023 Many recent contributions have made a compelling case that genetic diversity is not adequately reflected in international frameworks and policies, as well as in local governmental processes implementing such frameworks. Using digital sequence information
Isa‐Rita M. Russo +7 more
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Core issues, case studies, and the need for expanded Legacy African American genomics
Frontiers in Genetics, 2023 Introduction: Genomic studies of Legacy African Americans have a tangled and convoluted history in western science. In this review paper, core issues affecting African American genomic studies are addressed and two case studies, the New York African ...
Fatimah Jackson +2 more
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Diagnostics of hereditary cancer syndromes by ngs. A database creation experience [PDF]
Клиническая практика, 2021 Background: More than 500 thousand new cases of malignant neoplasms are registered annually in the Russian Federation, of which more than 50 thousand new cases are due to hereditary forms.
Ivan S. Abramov +8 more
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