Results 1 to 10 of about 10,086,238 (407)

Increasing power for voxel-wise genome-wide association studies : the random field theory, least square kernel machines and fast permutation procedures [PDF]

, 2012
Imaging traits are thought to have more direct links to genetic variation than diagnostic measures based on cognitive or clinical assessments and provide a powerful substrate to examine the influence of genetics on human brains. Although imaging genetics
Feng, Jianfeng, Ge, Tian, Hibar, Derrek P., Nichols, Thomas E., Thompson, Paul M.   +4 more
core   +1 more source

Clinical evaluation of long-read sequencing-based episignature detection in developmental disorders

Genome Medicine
Background A subset of developmental disorders (DD) is characterized by disease-specific genome-wide methylation changes. These episignatures inform on the underlying pathogenic mechanisms and can be used to assess the pathogenicity of genomic variants ...
Mathilde Geysens, Benjamin Huremagic, Erika Souche, Jeroen Breckpot, Koenraad Devriendt, Hilde Peeters, Griet Van Buggenhout, Hilde Van Esch, Kris Van Den Bogaert, Joris Robert Vermeesch   +9 more
doaj   +1 more source

Resposta ao trabalho de Kent e Santos: "'Os charruas vivem' nos Gaúchos: a vida social de uma pesquisa de 'resgate' genético de uma etnia indígena extinta no Sul do Brasil"

Horizontes Antropológicos, 2012
As atividades oriundas de ações humanas, incluindo pesquisas científicas, são estruturadas sob contextos individuais e coletivos. A artigo de Kent e Santos considera isso num cenário específico, mas ao descreverem tal fato eles também dão margem a ações ...
Maria Cátira Bortolini
doaj   +1 more source

Towards the Human Genotope [PDF]

, 2006
The human genotope is the convex hull of all allele frequency vectors that can be obtained from the genotypes present in the human population. In this paper we take a few initial steps towards a description of this object, which may be fundamental for ...
Huggins, Peter, Pachter, Lior, Sturmfels, Bernd   +2 more
core   +3 more sources

CRISPR/Cas9‐mediated genome editing: from basic research to translational medicine [PDF]

, 2020
The recent development of the CRISPR/Cas9 system as an efficient and accessible programmable genome-editing tool has revolutionized basic science research. CRISPR/Cas9 system-based technologies have armed researchers with new powerful tools to unveil the
Ferreira, B I, Jacinto, Filipe, Link, Wolfgang   +2 more
core   +1 more source

The FAIR data point populator: collaborative FAIRification and population of FAIR data points

BMC Medical Informatics and Decision Making
Background Use of the FAIR principles (Findable, Accessible, Interoperable and Reusable) allows the rapidly growing number of biomedical datasets to be optimally (re)used. An important aspect of the FAIR principles is metadata.
Daphne Wijnbergen, Rajaram Kaliyaperumal, Kees Burger, Luiz Olavo Bonino da Silva Santos, Barend Mons, Marco Roos, Eleni Mina   +6 more
doaj   +1 more source

Behinderung – Genetik – Vorsorge. Sterilisationspraxis und humangenetische Beratung in der Bundesrepublik

Zeithistorische Forschungen, 2013
To this day, there is no comprehensive account of the history of genetic counseling in the FRG. This is surprising, as studying the connections between counseling practice and disability as well as concepts and critique of Human Genetics allows for an ...
Britta-Marie Schenk
doaj   +1 more source

Public international law with regard to the social consequences of the development of genetics [PDF]

, 2016
The extension of international instruments in the field of human rights to embrace a bioethical perspective constitutes a response from international organisations to the social consequences of the development of genetics.
Kwiatkowski, Paweł
core   +2 more sources

The human Cranio Facial Development Protein 1 (Cfdp1) gene encodes a protein required for the maintenance of higher-order chromatin organization [PDF]

, 2017
The human Cranio Facial Development Protein 1 (Cfdp1) gene maps to chromosome 16q22.2-q22.3 and encodes the CFDP1 protein, which belongs to the evolutionarily conserved Bucentaur (BCNT) family.
Atterrato, Maria Teresa, Dimitri, Patrizio, Losada, Ana, Messina, Giovanni, Piacentini, Lucia, Prozzillo, Yuri   +5 more
core   +3 more sources

Drosophila Toxicogenomics: genetic variation and sexual dimorphism in susceptibility to 4-Methylimidazole

Human Genomics
Background 4-methylimidazole is a ubiquitous and potentially carcinogenic environmental toxicant. Genetic factors that contribute to variation in susceptibility to its toxic effects are challenging to assess in human populations.
Katelynne M. Collins, Elisabeth Howansky, Sarah C. Macon-Foley, Maria E. Adonay, Vijay Shankar, Richard F. Lyman, Nestor Octavio Nazario-Yepiz, Jordyn K. Brooks, Rachel A. Lyman, Trudy F. C. Mackay, Robert R. H. Anholt   +10 more
doaj   +1 more source