Jornal de Genômica Clínica e Médica

The Lab for Functional Genomics: Genetic Variants are Functionally Validated

Abstract

Christopher Amos

The functional genomics laboratory is a crucial component of modern biomedical research. It is a specialized facility that focuses on the study of the function and regulation of genes, their transcripts, and their products. In this laboratory, researchers use a variety of techniques and technologies to identify and analyze genetic variants, including single nucleotide polymorphisms (SNPs) and copy number variations (CNVs) that may be associated with disease or other biological traits. One of the primary goals of the functional genomics laboratory is to validate the functional significance of these genetic variants. This involves determining whether a given variant affects gene expression, protein function, or other biological processes in a meaningful way. Validating the functional impact of genetic variants is critical for understanding their role in disease and for developing new diagnostic and therapeutic strategies. To validate the functional impact of genetic variants, functional genomics laboratories use a variety of techniques and approaches.