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Incidental Findings with Genomic Testing: Implications for Genetic Counseling Practice
Springer Science and Business Media LLC - Tập 3 Số 4 - Trang 166-176 - 2015
Myra I. Roche, Jonathan S. Berg
Direct-to-Consumer Genetic Testing and Personal Genomics Services: A Review of Recent Empirical Studies
Springer Science and Business Media LLC - Tập 1 - Trang 182-200 - 2013
J. Scott Roberts, Jenny Ostergren
Direct-to-consumer genetic testing (DTC-GT) has sparked much controversy and undergone dramatic changes in its brief history. Debates over appropriate health policies regarding DTC-GT would benefit from empirical research on its benefits, harms, and limitations. We review the recent literature (2011-present) and summarize findings across (1) content analyses of DTC-GT websites, (2) studies of cons... hiện toàn bộ
Admixture, Genetics and Complex Diseases in Latin Americans and US Hispanics
Springer Science and Business Media LLC - Tập 6 - Trang 208-223 - 2018
Giordano Soares-Souza, Victor Borda, Fernanda Kehdy, Eduardo Tarazona-Santos
We review population and epidemiological genetics studies in Latin Americans and US Hispanics/Latinos, who are product of admixture between Europeans, Africans, and Native Americans. Admixture studies identified a Southeastern-Africa/Bantu ancestry component more prevalent in Brazil. Contrasting dynamics of Native American introgression into admixed populations were inferred: > 400 years ago in Br... hiện toàn bộ
Genetic Counseling for Autism Spectrum Disorder in an Evolving Theoretical Landscape
Springer Science and Business Media LLC - - 2016
Brenda Finucane, Scott M. Myers
Opportunities for Artificial Intelligence in Advancing Precision Medicine
Springer Science and Business Media LLC - Tập 7 - Trang 208-213 - 2019
Fabian V. Filipp
We critically evaluate the future potential of machine learning (ML), deep learning (DL), and artificial intelligence (AI) in precision medicine. The goal of this work is to show progress in ML in digital health, to exemplify future needs and trends, and to identify any essential prerequisites of AI and ML for precision health. High-throughput technologies are delivering growing volumes of biomedi... hiện toàn bộ
Recent Progress in Functional Genomic Studies of Depression and Suicide
Springer Science and Business Media LLC - - 2017
Dennys Ramon de Melo Fernandes Almeida, Gustavo Turecki
Recent Advances in the Genetics of Frontotemporal Dementia
Springer Science and Business Media LLC - Tập 7 - Trang 41-52 - 2019
Daniel W. Sirkis, Ethan G. Geier, Luke W. Bonham, Celeste M. Karch, Jennifer S. Yokoyama
In this review, we highlight recent advances in the human genetics of frontotemporal dementia (FTD). In addition to providing a broad survey of genes implicated in FTD in the last several years, we also discuss variation in genes implicated in both hereditary leukodystrophies and risk for FTD (e.g., TREM2, TMEM106B, CSF1R, AARS2, NOTCH3). Over the past 5 years, genetic variation in approximately 5... hiện toàn bộ
Protective Variants in Alzheimer’s Disease
Springer Science and Business Media LLC - Tập 7 - Trang 1-12 - 2019
Shea J. Andrews, Brian Fulton-Howard, Alison Goate
Over the last decade, over 40 loci have been associated with risk of Alzheimer’s disease (AD). However, most studies have either focused on identifying risk loci or performing unbiased screens without a focus on protective variation in AD. Here, we provide a review of known protective variants in AD and their putative mechanisms of action. Additionally, we recommend strategies for finding new prot... hiện toàn bộ
Management and Screening in Neurofibromatosis Types 1 and 2
Springer Science and Business Media LLC - Tập 7 - Trang 92-101 - 2019
Adam C. Shaw
Neurofibromatosis types 1 and 2 (NF1 & NF2) are complex genetic diseases that provide challenges in diagnosis, monitoring, clinical management and genetic counselling. This review highlights these challenges and provides insight into the general and specialist management considerations. Multidisciplinary care with a focus on evidence based interventions and quality of life outcomes has benefited p... hiện toàn bộ
State-of-the-Art Technologies to Interrogate Genetic/Genomic Components of Drug Response
Springer Science and Business Media LLC - Tập 1 - Trang 150-161 - 2013
Santasree Banerjee, Ming Qi
Over the last decade, the study of genomes has rapidly advanced to the point that genomic research now serves as the basis for many medical decisions and public health initiatives. Genetic variation is likely to contribute substantially to the variation in drug response observed across human populations. Genomic tools such as sequence variation and, more specifically, personal genome sequencing in... hiện toàn bộ
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