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Abstract Background Comparative genomics and plastome phylogenomics have advanced significantly in recent years, highlighting the diversity, possible admixture, and non-neutral evolution of the predominantly considered n...

Background Type 2 diabetes (T2D) is a chronic metabolic disorder with high comorbidity with mental disorders. The genetic links between attention-deficit/hyperactivity disorder (ADHD) and T2D have yet to be elucidated.Ai...

Random Amplified Polymorphic DNA markers were used to evaluate the· genetic stability of micro propagated plants of potato (Solanum tuberosum) var.Desiree .To achieve this genomic DNA wasextracted from the samples to ...

Abstract Subarachnoid hemorrhage (SAH) is an extremely lethal cerebrovascular emergency that can lead to severe long term neurological deficits. Modern research evidence indicates that the incidence of SAH varies signifi...

Nonsyndromic orofacial clefts (NSOC) are common congenital craniofacial developmental defects. Current evidence suggests that genetic factors, environmental exposures, and their interactions jointly contribute to the dev...

Abstract The past 25 years have seen remarkable progress in plant circadian biology. This perspective highlights major advances in our understanding of the oscillator network, the processes it regulates, and circadian va...

Abstract Selenoproteins incorporate the rare selenium-containing amino acid selenocysteine (Sec) and play crucial roles for redox homeostasis, stress response, and hormone regulation. Sec is inserted by co-translational ...

Background and objectives: Tumors are complex systems characterized by variations across genetic, transcriptomic, phenotypic, and microenvironmental levels. This study introduced a novel framework for quantifying cancer ...

Abstract Recent advancements in single-cell DNA methylation (scDNAm) sequencing technologies have enabled the profiling of epigenetic landscapes at unprecedented resolution, offering insights into cellular heterogeneity,...

Genomic and darwinian medicine deal with the application of hereditary and evolutionary principles for the understanding of health and disease. The progress in molecular and bioinformatic knowledge is making possible thr...

Materias / palabras clave: Biology; Indel; Genotyping; DNA sequencing; Exome sequencing; Exome; Genome; 1000 Genomes Project; Computational biology; Human genome; Structural variation; Genomics

The 1000 Genomes Project set out to provide a comprehensive description of common human genetic variation by applying whole-genome sequencing to a diverse set of individuals from multiple populations. Here we report comp...

The UK Biobank project is a prospective cohort study with deep genetic and phenotypic data collected on approximately 500,000 individuals from across the United Kingdom, aged between 40 and 69 at recruitment. The open re...

High-throughput sequencing platforms are generating massive amounts of genetic variation data for diverse genomes, but it remains a challenge to pinpoint a small subset of functionally important variants. To fill these u...

We describe a new computer program, SnpEff, for rapidly categorizing the effects of variants in genome sequences. Once a genome is sequenced, SnpEff annotates variants based on their genomic locations and predicts coding...

We analysed primary breast cancers by genomic DNA copy number arrays, DNA methylation, exome sequencing, messenger RNA arrays, microRNA sequencing and reverse-phase protein arrays. Our ability to integrate information ac...

Much of the complexity within cells arises from functional and regulatory interactions among proteins. The core of these interactions is increasingly known, but novel interactions continue to be discovered, and the infor...

A 2.91-billion base pair (bp) consensus sequence of the euchromatic portion of the human genome was generated by the whole-genome shotgun sequencing method. The 14.8-billion bp DNA sequence was generated over 9 months fr...

Materias / palabras clave: human genetics, rare disease, genomic variation, genetic medicine, genomics; Science: Biology (General): Genetics

Materias / palabras clave: bioinformatics, biotechnology, mathematical modelling, genomic variation, pathology, algorithms; Technology: Chemical technology: Biotechnology; Science: Biology (General)

Materias / palabras clave: genetics, genomics, epigenomics, genetic variants, copy number variations, genetic diseases; Science: Biology (General): Genetics