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Evidence from both GWAS and clinical observation has suggested that certain psychiatric, metabolic, and autoimmune diseases are heterogeneous, comprising multiple subtypes with distinct genomic etiologies and Polygenic R...

Smilax glabra, a perennial vine with high pharmaceutical value, exhibits seed dormancy under natural conditions that severely restricts artificial propagation and industrial-scale cultivation. This study aims to systemat...

Circadian clocks coordinate time-of-day-specific metabolic and physiological processes to maximize organismal performance and fitness. In addition to light and temperature, which are regarded as strong zeitgebers for cir...

Abstract Background Type 1 diabetes (T1D) is a lifelong autoimmune condition characterised by the progressive immune-mediated destruction of insulin-secreting β-cells within the pancreatic islets, culminating in absolut...

Perlman syndrome is a rare autosomal recessive overgrowth disorder characterized by macrosomia, nephromegaly, renal dysplasia, and characteristic facial features. It has both similarities and differences to other more co...

Although DNA methylation is the best characterized epigenetic mark, the mechanism by which it is targeted to specific regions in the genome remains unclear. Recent studies have revealed that local DNA methylation profile...

Circadian rhythms are generated by endogenous pacemakers that rely on transcriptional-translational feedback mechanisms conserved among species. In Drosophila, the stability of a key pacemaker protein PERIOD (PER) is tig...

Introduction People who experience Ehlers-Danlos syndrome (EDS), particularly hypermobile EDS (hEDS), face significant delays in receiving an accurate diagnosis. They also tend to be misdiagnosed due to a widespread lack...

Abstract Prostate cancer (PCa) is a heterogeneous and prevalent neoplasm, traditionally stratified by PSA and Gleason Score. However, these biomarkers have prognostic limitations, driving the search for new molecular mar...

Abstract Background Head and neck squamous cell carcinoma (HNSCC) is a prevalent and aggressive malignancy with limited prognostic markers. Ubiquitin-specific peptidase 33 (USP33) has emerged as a potential modulator of ...

A series of yeast shuttle vectors and host strains has been created to allow more efficient manipulation of DNA in Saccharomyces cerevisiae. Transplacement vectors were constructed and used to derive yeast strains contai...

Materias / palabras clave: Mendelian randomization; Pleiotropy; Biology; Genetics; Trait; Mendelian inheritance; Outlier; Evolutionary biology; Statistics; Phenotype; Mathematics; Genetic variants

Materias / palabras clave: Biology; Suite; Software; Software suite; Scale (ratio); Software development; Sequence (biology); Computational biology; Data science; Bioinformatics; Computer science; Genetics

Page 108, last line of text, for P/P″ read P′/P″. Page 120, last line, for δ v read δ y . Page 123, line 10, for 4Nn read 4Nu. Page 125, line 1, for q read q. Page 126, line 12, for q read q. Page 135, line 5 fro...

Materias / palabras clave: Genome-wide association study; Heritability; Missing heritability problem; Genetic association; Quantitative trait locus; Single-nucleotide polymorphism; Linkage disequilibrium; Trait; Genetics; Biology; Computer science...

We describe a model-based clustering method for using multilocus genotype data to infer population structure and assign individuals to populations. We assume a model in which there are K populations (where K may be unkno...

Materias / palabras clave: Biology; Gene; DNA microarray; Gene expression profiling; Gene expression; Oxidative phosphorylation; Genetics; Regulation of gene expression; Computational biology; Biochemistry

Materias / palabras clave: Population stratification; Spurious relationship; Biology; Principal component analysis; Allele frequency; Genetic association; Genome-wide association study; Population; Evolutionary biology; Computational biology; Geno...

Current clinical practice is organized according to tissue or organ of origin of tumors. Now, The Cancer Genome Atlas (TCGA) Research Network has started to identify genomic and other molecular commonalities among a doze...

In this paper we report exploratory analyses of high-density oligonucleotide array data from the Affymetrix GeneChip system with the objective of improving upon currently used measures of gene expression. Our analyses ma...

There is increasing evidence that genome-wide association (GWA) studies represent a powerful approach to the identification of genes involved in common human diseases. We describe a joint GWA study (using the Affymetrix ...

Our interest is to define evolutionary algorithms to solve Constraint Satisfaction Problems (CSP), which indlude benefits of taditional resolution methods of CSPs as well as inherent characteristics of these kind of prob...

Este artículo analiza algunas ideas, imágenes y creencias relacionadas con las nuevas "ciencias de la vida", y cuestiona su influencia en las redefiniciones de la condición humana, la salud y la enfermedad que están ...