Gene expression is a molecular trait that can cumulatively contribute to more complex phenotypes. Interspecies hybrids have long been used to study the genetics basis of molecular, morphological and...

The Southern Cone represents the southernmost region of South America to be colonized by humans. Although ancient genomes have been sequenced from southern Patagonia, genomic data from the central...

Gene drive is a novel approach for controlling vector borne disease via either population modification or suppression. Even with high efficiency, though, overall drive performance can be reduced by...

At least half of all women will experience a urinary tract infection (UTI) in their lifetime. Age, sexual activity, hormonal status, and the urinary tract microbiome (urobiome) contribute to the...

Dual-specificity tyrosine phosphorylation-regulated kinase 1A ( DYRK1A ) is a dosage sensitive gene located on human chromosome 21 (Hsa21) that contributes to phenotypes associated with developmental...

Rare variant burden tests can directly identify genes that influence complex traits, but their power is limited by our ability to separate functional from benign alleles. We introduce FlexRV, an...

Mendelian randomization (MR) is a popular statistical technique that uses genetic variants to explore causal relationships in observational epidemiology. Summary-level MR, the most common form,...

Heterosis, or hybrid vigor, is a key phenomenon in genetics research and agricultural production, and has been primarily attributed to non-additive genetic effects such as dominance — a prevailing...

Hybrid breeding is a method of selecting parental lines and determining crosses that are likely to yield the best hybrids. Genomic prediction (GP), a tool that uses genome wide markers, can be...

Congenital ectopia lentis (EL) threatens visual outcomes in children. To clarify the role of ADAMTSL4, we analyzed 702 pedigrees and identified pathogenic variants in 23 probands (3.28%), including...

Background: BRCA1-associated protein 1 (BAP1) is a deubiquitinase, frequently altered in cancers including hepatocellular carcinoma and cholangiocarcinoma. While Bap1 has been shown to play key roles...

Chromatin packaging influences gene expression and is linked to genome stability through the establishment and maintenance of histone modifications. Histone chaperone proteins regulate chromatin...

This study used single-SNP association analysis and machine learning to investigate the genetic basis of three agronomic traits, including coffee bean production, leaf rust incidence, and green bean...

Circulating hormones, that mediate communications across organs to maintain physiological balance, are commonly detected and quantified using enzyme-linked immunosorbent assays (ELISAs). However,...

Speciation mainly depends on different mechanisms involved in reproductive isolation; Understanding such barriers that consistently develop to avoid the fitness cost through reinforcement until the...

Cohesin is a conserved protein complex that mediates sister chromatid cohesion, chromosome condensation, gene regulation, and DNA repair. These processes rely on cohesin's ability to tether sister...

Cardiovascular disease remains a leading cause of mortality despite current therapies targeting low-density lipoprotein cholesterol (LDL-C). Beta-1,4-galactosyltransferase 1 (B4GALT1), a central...

Variants with intermediate functional effects—those that neither abolish nor fully preserve gene function—constitute an underappreciated source of genetic complexity and a grey zone for classificat...

The extent to which somatic mitochondrial DNA (mtDNA) mutations are subject to selection is a fundamental question relevant to development, mitochondrial disease, cancer, and aging. Recently a study...

The multicopy 47S ribosomal RNA (rRNA) genes are among the most highly expressed genes in the human genome, yet to-date essentially no disease-causing sequence variants have been identified in these...