Genomics

Functional genomics encompasses diverse disciplines in molecular biology and bioinformatics to comprehend the blueprint, regulation, and expression of the genetic elements that define the physiology of an organism. ^[1] The deluge of sequencing data in the postgenomics era has demanded the involvement of computer scientists and mathematicians to create algorithms, analytical software, and databases for the storage, curation, and analysis of biological big data. ^[1]

Multi-omics refers to the crossover application of multiple high-throughput screening technologies represented by genomics, transcriptomics, single-cell transcriptomics, proteomics, and metabolomics, which play a great role in promoting the study of human diseases. ^[2] Single-cell sequencing technologies have revolutionized aging research by providing unprecedented resolution and detailed insights into cellular diversity and dynamics, encompassing single-cell genomics, transcriptomics, epigenomics, and proteomics. ^[3] Sports genomics research relies on candidate gene and genome-wide association studies, meta-analyses, and larger-scale initiatives such as the UK Biobank to identify DNA polymorphisms associated with athlete status. ^[4]

Aging can be viewed as a process promoted by overactivation of gerogenes, that is, genes and molecular pathways that favor biological aging, and slowed by gerosuppressors, much as cancers are caused by activation of oncogenes and prevented by tumor suppressors. ^[5] New molecular profiling technologies enable the characterization of gerogenic and gerosuppressive pathways, which serve as biomarkers of aging, inaugurating the era of precision geromedicine in which gerotherapeutics may be tailored to each person based on their genetic profile and omics-based biomarkers of aging. ^[5] Single-cell genomics and related omics approaches have been essential in identifying aging biomarkers, elucidating signaling pathways associated with aging, discovering novel aging cell subpopulations, and uncovering tissue-specific aging characteristics. ^[3]

Genomic tumour profiling has a crucial role in the management of patients with solid cancers, as it helps to select and prioritize therapeutic interventions based on prognostic and predictive biomarkers as well as to identify markers of hereditary cancers. ^[6] A genome-wide association study meta-analysis of osteoarthritis across up to 489,975 cases and 1,472,094 controls established 962 independent associations, of which 513 had not been previously reported, and found that 10% of the implicated effector genes express a protein that is the target of approved drugs, offering repurposing opportunities. ^[7] Genetic testing is indicated for cardiomyopathy to assist in patient care and management of at-risk family members, as the genetic bases of the primary cardiomyopathies have been established and each is medically actionable. ^[8]