[PDF] Proceedings Of The Genetic Analysis Workshop eBook

Author : National Academies of Sciences, Engineering, and Medicine
Publisher : National Academies Press
Page : 201 pages
File Size : 48,19 MB
Release : 2020-12-18
Category : Science
ISBN : 0309676738

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One of the holy grails in biology is the ability to predict functional characteristics from an organism's genetic sequence. Despite decades of research since the first sequencing of an organism in 1995, scientists still do not understand exactly how the information in genes is converted into an organism's phenotype, its physical characteristics. Functional genomics attempts to make use of the vast wealth of data from "-omics" screens and projects to describe gene and protein functions and interactions. A February 2020 workshop was held to determine research needs to advance the field of functional genomics over the next 10-20 years. Speakers and participants discussed goals, strategies, and technical needs to allow functional genomics to contribute to the advancement of basic knowledge and its applications that would benefit society. This publication summarizes the presentations and discussions from the workshop.

Author : National Academies of Sciences, Engineering, and Medicine
Publisher : National Academies Press
Page : 113 pages
File Size : 49,85 MB
Release : 2020-08-23
Category : Medical
ISBN : 0309673038

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Consumer genomics, encompassing both direct-to-consumer applications (i.e., genetic testing that is accessed by a consumer directly from a commercial company apart from a health care provider) and consumer-driven genetic testing (i.e., genetic testing ordered by a health care provider in response to an informed patient request), has evolved considerably over the past decade, moving from more personal utility-focused applications outside of traditional health care to interfacing with clinical care in nontraditional ways. As consumer genomics has increasingly intersected with clinical applications, discussions have arisen around the need to demonstrate clinical and analytical validity and clinical utility due to the potential for misinterpretation by consumers. Clinical readiness and interest for this information have presented educational and training challenges for providers. At the same time, consumer genomics has emerged as a potentially innovative mechanism for thinking about health literacy and engaging participants in their health and health care. To explore the current landscape of consumer genomics and the implications for how genetic test information is used or may be used in research and clinical care, the Roundtable on Genomics and Precision Health of the National Academies of Sciences, Engineering, and Medicine hosted a public workshop on October 29, 2019, in Washington, DC. Discussions included such topics as the diversity of participant populations, the impact of consumer genomics on health literacy and engagement, knowledge gaps related to the use of consumer genomics in clinical care, and regulatory and health policy issues such as data privacy and security. A broad array of stakeholders took part in the workshop, including genomics and consumer genomics experts, epidemiologists, health disparities researchers, clinicians, users of consumer genomics research applications, representatives from patient advocacy groups, payers, bioethicists, regulators, and policy makers. This publication summarizes the presentations and discussion of the workshop.

Author : Robert C. Elston
Publisher : John Wiley & Sons
Page : 258 pages
File Size : 44,25 MB
Release : 1989
Category : Science
ISBN :

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Using both empirical and simulated data, this study examines selected computational approaches and algorithms for analyzing the genetic etiology of a disease. It compares a wide variety of analytical methods and highlights areas of substantive interest to geneticists investigating human disease. Its methodologic emphasis provides useful guidance for the design of future studies to map disease susceptibility loci.