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Materias / palabras clave: sequencing technologies, genome editing and genome engineering, imaging technologies, single-molecule methods, computational methods, machine learning; Technology: Chemical technology: Biotechnology | Science: Chemistry:...

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...

The rapid annual increase in conditions classified as inborn errors of immunity (IEI), along with associated genetic variants, creates diagnostic challenges. The comprehensive nature of exome sequencing (ES) and genome s...

Abstract T cell states are prognostic in different cancer types. Recent technologies enable joint profiling of T cell RNA and T cell receptor (TCR) sequences at single-cell resolution. Here we present the TCR-RNA Integra...

ObjectiveTo investigate and analyze the epidemiological characteristics of an outbreak of foodborne disease in school K， explore key procedures and response measures for on-site management of such outbreaks， and to p...

Background: Barrett's esophagus (BE) represents a critical precancerous lesion arising from chronic gastroesophageal reflux disease (GERD), with significant risk of progression to esophageal adenocarcinoma. Despite advan...

Elucidation of the cellular functions of RNAs represents one of the most exciting research areas in modern life sciences. RNAs play crucial roles in plant biology, including developmental regulation and environmental res...

Abstract Actinidia rufa is a valuable species for hybridization and introgressive breeding of new kiwifruit cultivars due to its exceptional tolerance to waterlogging. In this study, a chromosome-level genome of A. rufa ...

Abstract Many codecs with different error-correction approaches have been implemented for DNA data storage to date. However, no studies have systematically benchmarked codec implementations to establish their current sta...

Background and AimsAcquired immunodeficiency in patients with hematological oncology is a serious and common complication, significantly impacting prognosis and quality of life. High doses of cytostatic drugs and the mal...

Cytogenetics has long represented a critical component in the clinical evaluation of hematologic malignancies. Chromosome banding studies provide a simultaneous snapshot of genome-wide copy number and structural variatio...

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,...

ObjectiveTo develop a rapid method for the screening and identification of foodborne （C. perfringens） isolates using multiple nucleic acid detection system combined with matrix assisted laser desorpt ionionization ti...

The planting altitude of coffee is one of the important influencing factors on coffee quality. The effects of four planting altitudes (1,000 m, AT1; 1,200 m, AT2; 1,400 m, AT3; and 1,600 m, AT4) on the microorgan...

IntroductionTemporomandibular joint disorders (TMJD) are common, affecting approximately 30% of the population. While the aetiology of TMJD has been considerably discussed, one aspect that has not been thoroughly investi...

Abstract Dissecting the functional impact of genetic mutations is essential to advancing our understanding of genotype-phenotype relationships and identifying therapeutic targets. Despite progress in sequencing and genom...

Clinical PresentationPatients with germline TET2 loss of function exhibit a syndrome of immunodeficiency, autoimmune lymphoproliferation, developmental delay, and predisposition to lymphoma. An 8-week-old infant was admi...

SUMMARY: CD-HIT is a widely used program for clustering biological sequences to reduce sequence redundancy and improve the performance of other sequence analyses. In response to the rapid increase in the amount of sequen...

The lion's share of bacteria in various environments cannot be cloned in the laboratory and thus cannot be sequenced using existing technologies. A major goal of single-cell genomics is to complement gene-centric metagen...

MOTIVATION: The enormous amount of short reads generated by the new DNA sequencing technologies call for the development of fast and accurate read alignment programs. A first generation of hash table-based methods has be...

MOTIVATION: Next-generation sequencing technologies generate millions of short sequence reads, which are usually aligned to a reference genome. In many applications, the key information required for downstream analysis i...

MOTIVATION: Testing for correlations between different sets of genomic features is a fundamental task in genomics research. However, searching for overlaps between features with existing web-based methods is complicated ...

Understanding the evolutionary history of living organisms is a central problem in biology. Until recently the ability to infer evolutionary relationships was limited by the amount of DNA sequence data available, but new...

MOTIVATION: Next-generation sequencing technologies generate very large numbers of short reads. Even with very deep genome coverage, short read lengths cause problems in de novo assemblies. The use of paired-end librarie...