Genomics can reveal essential features about the demographic evolution of a population
that may not be apparent from historical elements. In recent years, there has been a …

Gene variant databases are the backbone of DNA-based diagnostics. These databases,
also called Locus-Specific DataBases (LSDBs), store information on variants in the human …

Background Studying the human genome is crucial to embrace precision medicine through
tailoring treatment and prevention strategies to the unique genetic makeup and molecular …

Rare diseases affect millions of people worldwide, and most have a genetic etiology. The
incorporation of next-generation sequencing into clinical settings, particularly exome and …

SARS-CoV-2 utilizes the angiotensin-converting enzyme 2 (ACE2) receptor and
transmembrane serine protease (TMPRSS2) to infect human lung cells. Previous studies …

Early diagnosis of genetic rare diseases is an unmet need in Brazil, where an estimated 10–
13 million people live with these conditions. Increased use of chromosome microarray …

Type 2 diabetes has a global prevalence, with epidemiological data suggesting that some
populations have a higher risk of develo** this disease. However, to date, most genetic …

Around ten million people are infected with HTLV-1 worldwide, and 1–4% develop HTLV-1-
associated myelopathy/tropical spastic paraparesis (HAM/TSP), characterized by an …

Integrating genomics into healthcare within the precision medicine (PM) framework poses
distinct challenges in resource-limited regions like Latin America and the Caribbean (LAC) …

Precision medicine has revolutionized the field of neuroimmunology, with innovative
approaches that characterize diseases based on their biology, deeper understanding of the …