Bioinformatics and Human Genomics Research

2021 ◽  
Author(s):  
Diego A. Forero
2021 ◽  
Vol 13 (1) ◽  
Author(s):  
Megan C. Roberts ◽  
Alison E. Fohner ◽  
Latrice Landry ◽  
Dana Lee Olstad ◽  
Amelia K. Smit ◽  
...  

AbstractPrecision public health is a relatively new field that integrates components of precision medicine, such as human genomics research, with public health concepts to help improve population health. Despite interest in advancing precision public health initiatives using human genomics research, current and future opportunities in this emerging field remain largely undescribed. To that end, we provide examples of promising opportunities and current applications of genomics research within precision public health and outline future directions within five major domains of public health: biostatistics, environmental health, epidemiology, health policy and health services, and social and behavioral science. To further extend applications of genomics within precision public health research, three key cross-cutting challenges will need to be addressed: developing policies that implement precision public health initiatives at multiple levels, improving data integration and developing more rigorous methodologies, and incorporating initiatives that address health equity. Realizing the potential to better integrate human genomics within precision public health will require transdisciplinary efforts that leverage the strengths of both precision medicine and public health.


Author(s):  
Manoj Vimal

Innovations in biomedical research have the potential to transform the healthcare diagnostics. Human genomics research is another approach which provides new tools and techniques by which life science researchers hope will help in predicting susceptibility towards common diseases. In this backdrop, this paper attempts to explore at the intersection of health, technology and society by attempting to understand as how human genomics approach can help the life scientists to unravel the disease susceptibility in case of human genetic disorders. Actor-Network Theory has been deployed as a theoretical framework as it gives some agency to non-human actors along with human actors. It has been argued in this paper that non-human ‘actants' play a decisive role in case of human genomics research. Rise of human genomics has been traced since the term ‘genomics' was first coined to the present day's promise and hope generated by the advances in human genomics. Some misconceptions and clarifications regarding ANT have also been discussed in this paper.


2007 ◽  
Vol 30 (1) ◽  
pp. 82-88
Author(s):  
Raymond B. Penn ◽  
Victor E. Ortega ◽  
Eugene R. Bleecker

In August 2006, the Center for Human Genomics of the Wake Forest University School of Medicine in Winston-Salem, NC, hosted the National Institutes of Health-sponsored Roadmap Course entitled Models and Technologies for Defining Phenotype. Twenty-four biomedical and genomic researchers from throughout the world and with varying degrees of experience in the genomics, biological, and biomedical engineering sciences were invited to participate as students in a comprehensive course dedicated to presenting and evaluating current and future approaches that can overcome the problems experienced to date in characterizing the functional consequences of gene variation. A total of 34 senior researchers from four different academic institutions served as course faculty and employed a pedagogical approach that emphasized hands-on workshops, demonstrations, and small group discussions and tasks. Through this report we convey the complex and formidable problems unique to genomics research as we attempt to link the field of genomic research to complex human diseases. Furthermore, we describe the logic and organization of a Roadmap Course designed to teach a diverse group of researchers a multi-disciplinary approach to addressing complex biomedical scenarios in the field of human genomics.


2017 ◽  
Vol 19 (3) ◽  
pp. 175-185 ◽  
Author(s):  
Lucia A. Hindorff ◽  
Vence L. Bonham ◽  
Lawrence C. Brody ◽  
Margaret E. C. Ginoza ◽  
Carolyn M. Hutter ◽  
...  

2021 ◽  
Vol 11 (1) ◽  
Author(s):  
Nora I. Strom ◽  
Takahiro Soda ◽  
Carol A. Mathews ◽  
Lea K. Davis

AbstractThis review covers recent findings in the genomics of obsessive-compulsive disorder (OCD), obsessive-compulsive symptoms, and related traits from a dimensional perspective. We focus on discoveries stemming from technical and methodological advances of the past five years and present a synthesis of human genomics research on OCD. On balance, reviewed studies demonstrate that OCD is a dimensional trait with a highly polygenic architecture and genetic correlations to multiple, often comorbid psychiatric phenotypes. We discuss the phenotypic and genetic findings of these studies in the context of the dimensional framework, relying on a continuous phenotype definition, and contrast these observations with discoveries based on a categorical diagnostic framework, relying on a dichotomous case/control definition. Finally, we highlight gaps in knowledge and new directions for OCD genetics research.


2021 ◽  
pp. 1-6
Author(s):  
Diego A. Forero ◽  
Yeimy González-Giraldo

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