Work

P825: GENYSIS: A novel core facility for clinical evaluation of research genomic sequence

Year: 2024

Type: article

Abstract: Determination of the clinical impact of genetic variation requires specialized expertise. However, with expanding recognition of genomic information’s utility, these data are increasingly being incorporated in research studies by investigators whose expertise is outside of the domain of clinical variant classification. Many of these researchers may not have the resources to implement the infrastructure for clinical-grade analysis as part of their studies. To address this need, the University of North Carolina at Chapel Hill (UNC-CH), with the support of its Program for Precision Medicine in Health Care, recently started GENYSIS: the clinical GENomic analYSIS core facility.

Source: Genetics in Medicine Open

DOI: 10.1016/j.gimo.2024.101736

Authors: Bradford Powell, Kimberly Foss, Elizabeth Hutchins, Mai Xiong, Tam Sneddon

Institution: University of North Carolina at Chapel Hill

Language: English

Topic: Genomics and Rare Diseases

Subfield: Genetics

Field: Biochemistry, Genetics and Molecular Biology

Domain: Life Sciences

SDG: Good health and well-being

Open Access status: gold

Estimated APC paid: $3,200