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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...

Nanopore sensors are expected to be one of the most promising next generation sequencing technologies, with label-free, amplification-free and high-throughput fea‐ tures, as well as rapid detections and low cost. Solid...

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,...

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...