Categoría: Human Genetics and Genomics Advances

The 15th anniversary of Genes, alongside the 10th anniversary of its initial Impact Factor, marks a significant milestone in reflecting on the remarkable advancements in the field of human molecular genetics […].

Immunotherapy with checkpoint inhibitors has revolutionized cancer therapy and enabled considerable therapeutic advances for treating various diseases, including lung cancer. However, the molecular determinants of variable patient outcomes remain unclear. Using long-read RNA sequencing, we mapped the landscape of alternative RNA splicing in human primary lung adenocarcinomas. We identified more than 149,000 full-length messenger RNA…

Tsetse (Diptera: Glossinidae) are the exclusive cyclical vector of human and animal African trypanosomoses and continue to threaten health and agricultural productivity across sub-Saharan Africa. Area-wide integrated pest management (AW-IPM) strategies provide a coordinated framework for combining tools such as the sterile insect technique (SIT), insecticide-treated targets and cattle, and others. This review examines the…

Genetically driven immune diseases are immune-mediated disorders involving germline and/or somatic host genetic changes that make a major contribution to disease pathogenesis. These conditions, which include the inborn errors of immunity, may predispose patients to the development of immunodeficiency, immune dysregulation, atopy, autoinflammation or hyperinflammation, and malignancy. Since the development of massively parallel sequencing, also…

Endophenotypes are critical biological markers with genetic links to disease progression. We previously developed endoPRS, a multi-trait polygenic risk score (PRS) method that leverages endophenotype data to improve disease risk prediction. However, endoPRS requires individual-level genotype-phenotype data for model fitting, restricting its broader use. To address this, we introduce endoPRS-SS, an extension which enables PRS…

Biallelic loss-of-function variants in NRROS (Negative regulator of reactive oxygen species, previously LRRC33) cause a progressive neurodegenerative disorder characterized by early-onset seizures with brain calcifications. To date, 16 affected individuals from 13 unrelated families have been reported for this condition. We describe two siblings from a consanguineous family with this disorder, carrying a homozygous NRROS…

Gene-environment interactions (GEIs) contribute to circulating polyunsaturated fatty acid (PUFA) and monounsaturated fatty acid (MUFA) profiles. GEIs may partly explain differences in trait variance across genotype groups. To identify GEIs for circulating unsaturated fatty acids, we adopted a two-stage strategy. First, we detected quantitative trait loci associated with trait variance (vQTLs). Second, we tested these…

Genome-wide association studies (GWASs), combined with fine-mapping, have identified 196 independent signals associated with breast cancer risk. Deciphering the functional basis of these associations can inform our understanding of the biology and etiology of breast cancer. Decoding GWAS risk associations is challenging due to linkage disequilibrium between variants and because most variants map to non-coding…

PURPOSE OF REVIEW: Nasopharyngeal carcinoma (NPC) is a malignant tumor characterized by a distinct geographical distribution. Effective surveillance is crucial for the early detection of recurrence or metastasis and for improving patient prognosis.This review systematically examines current NPC follow-up protocols and recent developments to inform individualized precision surveillance.

Orofacial clefts (OFCs) are the most common craniofacial birth defect and comprise a diverse group of traits with complex and heterogeneous etiologies. Genetic studies of OFCs typically approach this diversity by stratifying cases into broad diagnostic classes, including cleft lip (CL), cleft palate (CP), and cleft lip with palate (CLP). Although this strategy has yielded…