Computational Genomics in the Era of Precision Medicine: Applications to Variant Analysis and Gene Therapy
Year: 2022
Type: review
Abstract: Rapid methodological advances in statistical and computational genomics have enabled researchers to better identify and interpret both rare and common variants responsible for complex human diseases. As we continue to see an expansion of these advances in the field, it is now imperative for researchers to understand the resources and methodologies available for various data types and study designs. In this review, we provide an overview of recent methods for identifying rare and common variants and understanding their roles in disease etiology. Additionally, we discuss the strategy, challenge, and promise of gene therapy. As computational and statistical approaches continue to improve, we will have an opportunity to translate human genetic findings into personalized health care.
Source: Journal of Personalized Medicine
DOI: 10.3390/jpm12020175
Language: English
Subfield: Genetics
Domain: Life Sciences
Open Access status: gold
Estimated APC paid: $2,094
Funders: Simons Foundation, University of Wisconsin-Madison, Foundation for Barnes-Jewish Hospital, Children's Discovery Institute, Rudi Schulte Research Institute, Georgia Clinical and Translational Science Alliance, Hydrocephalus Association, National Institutes of Health, National Institute on Aging, National Heart, Lung, and Blood Institute, National Institute of Neurological Disorders and Stroke, National Center for Advancing Translational Sciences
Awards: G1699415014, G2159147371, G2255072483, G2500929164, G3134000299, G3352606510, G4103096715, Integrative Genomic Analysis of Congenital Heart Disease, G4934515290, G5982044814, Human Genetics and Molecular Mechanisms of Congenital Hydrocephalus, Washington University Institute of Clinical and Translational Sciences, Center for Demography of Health and Aging
OpenAlex ID: W4210467184