The success of many clinical, association, or population genetics studies critically relies on
properly performed variant calling step. The variety of modern genomics protocols …

Sarcoglycanopathies are the most severe forms of autosomal recessive limb-girdle muscular
dystrophies (LGMDs), constituting about 10–25% of LGMDs. The clinical phenotype is …

Despite recent biomedical breakthroughs and large genomic studies growing momentum,
the Middle Eastern population, home to over 400 million people, is underrepresented in the …

Despite the high number of individuals infected by severe acute respiratory syndrome
coronavirus 2 (SARS-CoV-2) who develop coronavirus disease 2019 (COVID-19) symptoms …

Artificial intelligence (AI) and machine learning (ML) have an immense potential to transform
healthcare as already demonstrated in various medical specialties. This sco** review …

Latin Americans are underrepresented in genetic studies, increasing disparities in
personalized genomic medicine. Despite available genetic data from thousands of Latin …

HLA-G is a promiscuous immune checkpoint molecule. The HLA-G gene presents
substantial nucleotide variability in its regulatory regions. However, it encodes a limited …

Meeting the challenges brought by the COVID-19 pandemic requires an interdisciplinary
approach. In this context, integrating knowledge of immune function with an understanding …

Background Type 2 diabetes mellitus (T2DM) and obesity are complex pandemic diseases
in the 21st century. Worldwide, the T allele rs7903146 in the TCF7L2 gene is recognized as …

Background Despite the high number of individuals infected by SARS-CoV-2 who develop
COVID-19 symptoms worldwide, many exposed individuals remain asymptomatic and/or …