Genome Sequencing - Science method

Popliteal artery pseudoaneurysms are uncommon in young individuals, especially without an underlying connective tissue disorder. We present a case of a 14-year-old female who presented with acute lower limb ischemia due to a popliteal artery pseudoaneurysm. The patient had no personal or family history of a connective tissue disorder. Following rad...

Understanding how pathogens spread in human populations is key to effective infection prevention, but for most pathogens in community transmission, population transmission chains and their associated infection contexts remain elusive. From February to December 2021, we carried out one of the highest-intensity SARS-CoV-2 genomic surveillance program...

Main conclusion Through multi-faceted comparative analysis of MITEs across six pear genomes, we revealed their distribution patterns, functional impacts and their significant role as genomic origins for miRNAs, with copy number being the most critical factor for MITE-miRNA transformation, providing valuable insights for future research. Abstract M...

Triosteum (Caprifoliaceae) is a genus of herbaceous perennial angiosperms composed of three Asian and three North American species. The range of two similar species, T. aurantiacum and T. perfoliatum, overlap in the state of Massachusetts, USA, where the latter species is considered locally endangered and protected by regulations. The population oc...

Stephanie brachyandra Diels 1910, a medicinal plant endemic to Vietnam, is threatened by overexploitation due to its high economic value and limited distribution. Here, we report its complete chloroplast genome (157,760 bp), including 130 genes. Phylogenetic analysis shows a close relationship with S. cephalantha, S. yunnanensis, and S. epigaea. Th...

Bats are the natural reservoirs for a variety of emerging and re-emerging viruses. Among them, rabies virus (genus Lyssavirus , family Rhabdoviridae ) is one of the first and most emblematic described in these animals. Since its first description, several new bat lyssaviruses have been regularly identified. In addition to lyssaviruses, other bat rh...

To meet the needs of a large pharmaceutical organization, we set out to create S3Mirror - an application for transferring large genomic sequencing datasets between S3 buckets quickly, reliably, and observably. We used the DBOSTransact durable execution framework to achieve these goals and benchmarked the performance and cost of the application. S3M...

With the rapid advancement of the material industry, the demand for high-performance natural fibers is on the rise. This study aimed to characterize Abroma augustum bark fibers (AAF) as a promising reinforcement material. In addition to conducting botanical analysis through chloroplast genome sequencing, this research represents the first comprehen...

The COVID-19 pandemic exposed vulnerabilities in global laboratory supply chains, disrupting genomic surveillance efforts essential to epidemic response. To address this challenge, we developed ARTIC HELP (Homebrew Enzymes for Library Preparation), a practical, open-source adaptation of the widely adopted ARTIC nanopore sequencing protocol for vira...

Approximately 200 genetic skeletal disorders can present prenatally, detectable through ultrasound abnormalities during pregnancy. Severe forms are typically identified during the first or second trimester, whereas milder phenotypes are recognized later, in the third trimester. Diagnosing skeletal dysplasia prenatally is challenging due to the larg...

In October 2020, two feral Eurasian collared doves (Streptopelia decaocto) were found dead near a backyard chicken flock. Brain and trachea tissues were collected from the dead collared doves and swab samples were collected from 42 healthy in-contact backyard chickens for the isolation of Newcastle disease virus (NDV). Full-length genomic sequences...

Countries in the Global North use biochemical tests to screen for at least 20 diseases in newborns, while in the UK, only 10 diseases are screened for. The United Kingdom National Screening Committee (UKNSC) is the entity responsible for making recommendations to the government with regards to which conditions should be included in the Newborn Scre...

The transition to the Nordic Bronze Age included new technological innovations, social institutions and socio-political structures pushed by extensive long-distance exchange of metals and other exotica. However, traditional views often oversimplify this as a simple two-way trade system, failing to adequately explain the complex interactions in and...

, I discuss how the rationale and practices of health data sourcing within the Finnish welfare state data management institutions, and healthcare and social services have been reconfigured since the early 2000s, as biomedical and data scientists, innovation policy officials, and politicians have attached great economic expectations to the Finnish h...

This study reports the complete and draft genomes of 71 Mycobacterium tuberculosis isolates from the Philippines. Hybrid assembly using Illumina and Nanopore sequencing produced six complete genomes, while others had 2–422 contigs. These data enhance understanding of M. tuberculosis diversity and drug resistance, supporting targeted treatment strat...

Genomic sequences of the HLA‐DQB1*03:01:01:70, ‐DQB1*03:01:01:77, ‐DQB1*03:02:01:28, ‐DQB1*03:02:01:29, and ‐DQB1*03:03:02:19 alleles.

The COVID-19 pandemic exposed significant vulnerabilities in global and national public health systems,underscoring the need for robust preparedness strategies against emerging infectious diseases (EIDs). Inadequate surveillance, delayed outbreak detection, overwhelmed healthcare systems, misinformation, inequitable vaccine distribution, and fragme...

Tephritidae is an economically important family among Diptera that also exhibits high diversity, biogeographical distribution, and different lifestyles. Despite the recent release of genomes and mitochondrial genome sequences of various species of the family, the evolutionary history of the group and the origin of host adaptation within it remain p...

Genome assembly and structural variation analysis of strawberry varieties are essential for understanding the genetic basis of fruit quality traits, such as fruit texture, organic acid content and aroma. In this study, we employed PacBio HiFi reads and Hi-C sequencing to generate a haplotype-resolved chromosome-level genome assembly of the improved...

Phages, as viruses that specifically infect certain bacteria, have great research value in the prevention and control of bacterial diseases. Bacteria of the genus Aeromonas are widely distributed in aquatic environments and are important zoonotic pathogens that can cause a variety of diseases. In this study, two virulent phages, AhC3_1 and AsC4_1,...

Precision medicine has revolutionized cancer treatment by enabling highly personalized therapeutic strategies based on an individual’s genetic, molecular, and environmental characteristics. Advances in next-generation sequencing (NGS), molecular profiling, and biomarker-driven approaches have enhanced diagnostic accuracy and optimized treatment sel...

Background: Respiratory Syncytial Virus (RSV) causes significant respiratory infections, particularly in young children and elderly adults. Genetic variations in the fusion (F) protein can reduce the efficacy of vaccination and monoclonal antibody treatments, emphasizing the need for genomic surveillance. Motivation: Current pipelines for RSV genom...

We report the draft genome sequence of Pseudomonas aeruginosa from migratory birds at Jahangirnagar University, Bangladesh. The 6.27 Mb genome, sequenced using Illumina MiSeq, contains 5,719 coding sequences, including antibiotic resistance genes. This report highlights the role of wildlife in the dissemination of bacterial pathogens.

The individual genome continuously accumulates genetic variations from a zy-gote [1]. Despite their effective DNA repair mechanisms, many of these variants re-main in the genome and are passed down to daughter cells [2]. This leads to the pres-ence of distinct genomic sequences among different cells, tissues, and organs within the same individual,...

Vibrio harveyi is a major bacterial pathogen of marine aquatic animals causing significant economic losses in aquaculture. Here, we present the complete genomes of two pathogenic strains, VH2 (5.84 Mb, 44.99% GC) and Vhp1-sp (6.30 Mb, 44.98% GC), which encode numerous virulence factors, resistance genes, and genomic islands.

The coding-complete genome sequences of hedgehog coronavirus were retrieved from rectal swabs collected in 2022 and 2023 in France. Information on this virus is crucial to understand the pathogenicity and ecology of this Betacoronavirus .

A novel coronavirus called SARS-CoV-2 was detected in December 2019, leading to the COVID-19 pandemic that began in Wuhan, China. This virus is classified as severe acute respiratory syndrome SARS-CoV-2 due to its significant similarities with the SARS-CoV virus. Initially, bats were recognized as the primary animal hosts, but later research indica...

Since 2021, the novel H10N3 has caused four cases of human infection in China, the most recent of which occurred in December 2024, posing a potential threat to public health. Our previous studies indicated that several avian H10N3 strains are highly pathogenic in mice and can be transmitted between mammals via respiratory droplets without prior ada...

The integration of Explainable AI (XAI) with causal inference techniques offers a transformative approach to understanding and predicting Monkeypox outbreaks. This study leverages Vision Transformers (ViTs) to analyze lesion morphology alongside accelerated genomic sequencing data, enabling interpretable predictive modeling. By extracting salient f...

The rapid advancement of AI-powered detection and accelerated DNA sequencing technologies presents a transformative opportunity for pandemic preparedness, particularly in low-resource settings. However, the deployment of these technologies raises critical ethical considerations, including equity, accessibility, and justice. This paper examines the...

The rapid development of genome sequencing techniques in recent decades has revolutionized the field of evolutionary biology, facilitating the study of adaptation and speciation at the genome level. Genomic data has also become a cornerstone in conservation management, allowing inferences of population demography and genetic diversity. Here, we seq...

Ajania fastigiata is a traditional Chinese medicinal plant native to northwestern China. Here, we sequenced and assembled its complete chloroplast genome using Illumina data. The complete chloroplast genome of A. fastigiata is 151,118 bp in length and has a typical quadripartite structure, containing 132 genes (87 protein-coding genes, 37 tRNA, and...

Caraganajubata is a keystone species in high-altitude ecosystems, widely distributed across alpine regions above 2000 m in elevation. It demonstrates a strong adaptive capacity to extreme environments. The mechanisms that underlie the maintenance of its genetic diversity and its environmental adaptive evolution represent critical research direction...

This case report illustrates the transformative potential of personalized medicine through the application of targeted therapy guided by comprehensive genomic sequencing in a patient with metastatic melanoma. A 62-year-old male with stage IV melanoma, refractory to initial immunotherapy, underwent next-generation sequencing (NGS) of a tumor biopsy....

Motivation Alignment-based methods are fundamental for sequence comparison but are often computationally prohibitive for large-scale genomic analyses. This limitation has spurred the development of quicker, alignment-free alternatives, such as k-mer analysis, which are crucial for studying long non-coding ribonucleic acids (lncRNAs) in plants. Thes...

Deep learning sequence to function models can predict the molecular effects of genetic variants, but their predictions are limited to the cell types and assays they are trained on. Here we describe DNACipher, a deep learning model that predicts the effects of genetic variants across diverse biological contexts-including those not directly measured....

Reproductive traits are among the most important economic characteristics in sheep farming. Structural variations (SVs) are extensively distributed across sheep genomes and can directly or indirectly affect gene expression through a variety of mechanisms, leading to phenotypic variation among individuals or breeds. In this study, we characterized g...

Motivated by genetic fine-mapping applications, we introduce a new approach to Bayesian variable selection regression (BVSR) for time-to-event (TTE) outcomes. This new approach is designed to deal with the specific challenges that arise in genetic fine-mapping, including: the presence of very strong correlations among the covariates, often exceedin...

Neurotrophic receptor tyrosine kinases (NTRK1-3) play an essential role in the development and function of the nervous system. Their fusion with other genes has emerged as a critical target in cancer therapy, especially with the advent of personalized treatments using TRK inhibitors like larotrectinib and entrectinib. This systematic review explore...

Background As advanced molecular testing is incorporated into routine clinical practice, accessibility and yield remain limited. Objectives We propose a simplified and effective workup strategy to maximize diagnostic yield based on presented diagnostic yield of rare movement disorders at a tertiary Neurogenetics Clinic. Methods Retrospective anal...

The Oropouche virus (OROV) is an arbovirus (Peribunyaviridae: Orthobunyavirus) that traditionally causes febrile outbreaks in Latin America’s Amazon region. Previously, OROV was not associated with severe pregnancy outcomes. During the 2022–2024 outbreak in Brazil, OROV expanded geographically, revealing links to adverse pregnancy outcomes. This st...

Parchment is a writing surface derived from animal skins. While sequencing the mitochondrial genome has been used to identify the parchment animal source, non-destructive sampling methods are pivotal because of their unique and irreplaceable nature. In this study, four different parchments were utilized to evaluate three non-destructive sampling me...

The sharing of biomedical data is essential for accelerating healthcare research, fostering medical innovation, and improving patient outcomes. Such data encompasses a wide range of sensitive information, including electronic health records, genomic sequences, and clinical trial results. Despite its value, biomedical data sharing poses significant...

Medical data range from genomic sequences and retinal photographs to structured laboratory results and unstructured clinical narratives. Although these modalities appear disparate, many encode convergent information about a single underlying physiological state. The Latent Space Hypothesis frames each observation as a projection of a unified, hiera...

Background Tandem repeats (TRs) are major sources of genetic variation and important genetic markers. Their expansions are not only involved in gene expression regulation but also associated with many nervous system diseases and cancers. However, there is a lack of an efficient tandem repeat identification tool for seamless integration with larger...

We present a genome assembly from a female specimen of Oxycera nigricornis (Delicate Soldier fly; Arthropoda; Insecta; Diptera; Stratiomyidae). The genome sequence has a total length of 604.33 megabases. Most of the assembly (98.08%) is scaffolded into 6 chromosomal pseudomolecules. The mitochondrial genome has also been assembled, with a length of...

Background Plants have co-evolved with diverse associated microbiomes, including endophytic, which inhabit the internal tissues of healthy plants without causing any apparent harm. These microbiomes expand the genetic potential of plants, providing various benefits such as enhanced resilience to biotic and abiotic stresses, improved phytosanitary s...

Accurately estimating the prevalence and transmissibility of an infectious disease is an important task in genetic infectious disease epidemiology. However, generating accurate estimates of these quantities, that make use of both epidemic time series and pathogen genome sequence data, is a challenging problem. Phylogenetic birth–death processes are...

Single‐cell sequencing is useful for resolving complex systems into their composite cell types and computationally mining them for unique features that are masked in pooled sequencing. However, while commercial instruments have made single‐cell analysis widespread for mammalian cells, analogous tools for microbes are limited. Here, EASi‐seq (Easily...

Syringa meyeri C. K. Schneid. 1912 (Oleaceae) is a common dwarf ornamental lilac, native to Northeast China. In this study, the complete chloroplast genome of S. meyeri was assembled, exhibiting a typical quadripartite structure with a total length of 160,459 bp and a GC content of 37.9%. A total of 141 genes were annotated, including 96 protein-co...

In this study, the efficacy of indigenous bacteria present in Cr-contaminated soil was tested for soil decontamination. Potential bacterial strains were screened and selected from soil samples and immobilized on sodium alginate beads. The most effective Cr(VI) reducing strain identified using 16S rRNA genome sequencing was Enterococcus italicus. Ba...

We present a genome assembly from a female specimen of Cryptus armator (ichneumonid wasp; Arthropoda; Insecta; Hymenoptera; Ichneumonidae). The genome sequence has a total length of 366.66 megabases. The assembly is scaffolded into 11 chromosomal pseudomolecules. The mitochondrial genome has also been assembled, with a length of 30.84 kilobases. Ge...

We present a genome assembly from a male specimen of Ontholestes murinus (rove beetle; Arthropoda; Insecta; Coleoptera; Staphylinidae). The genome sequence has a total length of 1,023.31 megabases. Most of the assembly (92.41%) is scaffolded into 13 chromosomal pseudomolecules, including the X sex chromosome. The mitochondrial genome has also been...

By exploring the use of plasmids to confer Rhodococcus jostii RHA1 the possibility of utilizing xylose to produce lipids we have observed that the plasmid used was not always maintained in the transformants as expected. Instead, we observed an illegitimate integration of the antibiotic resistance gene from the plasmid into the recombinant cells. Ge...

We present a genome assembly from a female specimen of Chrysolina graminis (Tansy Beetle; Arthropoda; Insecta; Coleoptera; Chrysomelidae). The assembly contains two haplotypes with total lengths of 1,467.20 megabases and 1,455.42 megabases. Most of haplotype 1 (98.03%) is scaffolded into 12 chromosomal pseudomolecules, including the X sex chromosom...

The CRISPR-Cas system, an adaptive immune mechanism in prokaryotes against bacteriophages, has been developed into a versatile tool for recognizing and cleaving target nucleic acid sequences. In this study, we developed a model system by integrating CRISPR-Cas12a into the genome of temperate bacteriophage λ, enabling precise regulation of lysogeny...

Comprehensive expression datasets were constructed for Apis mellifera and Apis cerana japonica. Firstly, we obtained RNA-Seq data of the samples prepared: post-oviposition day 6 to day 58 samples of A. mellifera workers (larva to adult), and day 9, 10, 12, and 13 samples of A. mellifera queen (larva to pupa), and day 9 to day 18 samples of A. ceran...

We present a genome assembly from a male specimen of Nemotelus pantherinus (soldierfly; Arthropoda; Insecta; Diptera; Stratiomyidae). The genome sequence has a total length of 804.69 megabases. Most of the assembly (95.93%) is scaffolded into 6 chromosomal pseudomolecules, including the X and Y sex chromosomes. The mitochondrial genome has also bee...

We present a genome assembly from a female specimen of Stenus bimaculatus (rove beetle; Arthropoda; Insecta; Coleoptera; Staphylinidae). The genome sequence has a total length of 450.58 megabases. Most of the assembly (85.43%) is scaffolded into 8 chromosomal pseudomolecules, including the X sex chromosome. The mitochondrial genome has also been as...

We present a genome assembly from a male specimen of Xiphydria camelus (Alder Wood-wasp; Arthropoda; Insecta; Hymenoptera; Xiphydriidae). The genome sequence has a total length of 357.31 megabases. Most of the assembly (99.76%) is scaffolded into 11 chromosomal pseudomolecules. The mitochondrial genome has also been assembled, with a length of 19.2...

Emerging pollutants, such as diclofenac and ketoprofen, are substances of concern because of their toxicity and ecosystemic damage. In this study, Bacillus paralicheniformis HAS-1 was found to be a potential biodegrader of diclofenac and ketoprofen. The strain was isolated from soda lake sediment and its growth conditions were determined at differe...

The International Committee on Taxonomy of Viruses now mandates that all virus species names be presented in a binomial format. This requirement replaces the various naming formats that have been used since the first official virus taxonomy Report was published in 1971. A review of virus classification schemes as they have developed over the past c...

The accurate identification of Streptococcus pneumoniae (pneumococcus) is crucial for diagnostics and surveillance but is complicated by the use of molecular assays that may also detect non-pneumococcal Streptococcus (NPS) species. Therefore, the aim of this study was to use a combination of in silico and in vitro analyses to evaluate PCR assays fo...

Rare diseases collectively affect an estimated 400 million people worldwide, yet each individual disorder occurs so infrequently that clinicians seldom acquire enough experience to recognise its often-subtle presentation. This scarcity of familiarity, compounded by phenotypic heterogeneity and overlapping symptoms with common conditions, has create...

Variation in antibody (Ab) responses contributes to disease outcomes and therapeutic responsiveness, the determinants of which remain incompletely understood. This study demonstrates that polymorphisms in immunoglobulin kappa (IGK) and lambda (IGL) loci influence baseline differences in the Ab repertoire that preclude antigen-driven responses. We p...

Data on the genomics of Porphyromonas species other than Porphyromonas gingivalis (POTG), particularly within pulmonary environments, are scarce. In this study, we conducted whole-genome sequencing on pulmonary isolates of POTG, specifically Porphyromonas catoniae ( n =3), Porphyromonas pasteri ( n =1) and Porphyromonas uenonis ( n =2), from people...

Apicomplexan parasites of insects represent a largely unexplored branch of the tree of life. Their small size and lack of informative phenotypic traits can obscure their diversity and many lineage-specific adaptations to different host species. To better understand how these parasites have evolved, we have sequenced and annotated the genome of a ne...

The common yeast Saccharomyces cerevisiae is widely associated with anthropogenic habitats and dominates agave fermentations in Mexico, despite the absence of starter cultures in artisanal production. Yet, the origins and dispersal of the microorganisms involved in this fermentation system—including wild S. cerevisiae and its sister species S. para...

This preprint presents phylogenetic insights into Hibiscus and its allied genera through the analysis of complete chloroplast genome sequences

Nonribosomal peptide synthases (NRPSs) are large multimodular enzymes, capable of synthesizing nonribosomal peptides (NRPs) with diverse structures and bioactivities. Genome sequencing revealed a large number of uncharacterized NRPS biosynthetic gene clusters (BGCs) and their products are underexplored. The majority of NRPSs remain silent potential...

SEC31A-related neurodevelopmental disorder (Halperin–Birk syndrome) was recently identified in two siblings who shared the phenotype of profound developmental delay, structural brain defects, spastic quadriplegia with multiple contractures, seizures, dysmorphism, and optic nerve atrophy. Both patients died during childhood. In this study, we identi...

Fusarium oxysporum f. sp. cubense (Foc) causes Fusarium wilt, a devastating epidemic disease that has caused widespread damage to banana crops worldwide. We report the draft genomes of Foc race 1 (16117) and Foc tropical race 4 (Fusarium odoratissi-mum) (CNSD1) isolates from China, assembled using PacBio HiFi sequencing reads, with functional annot...

Neurodegenerescence with Brain Iron Accumulation conditions (NBIA) represents a heterogeneous group of rare Mendelian disorders, associated with excessive iron deposition in the brain, particularly in globus pallidus. Clinical manifestations variably associate extrapyramidal, pyramidal, cognitive and psychiatric symptoms, with neurodegeneration and...

Here, we described an Alphacoronavirus coding-complete genome identified in a French brown rat. This Alphacoronavirus was detected in Rattus norvegicus intestines (colon) collected in 2022 in Marseille, France.

The duckweeds feature global distributions and diverse applications in phytoremediation and nutrition, as well as use in fundamental studies of development. Existing collections have minimal environmental data linked to natural habitats. Thus, there is a lack of understanding of natural variation in the context of native habitats. Here, a novel col...

Background Baby corn has emerged as a profitable crop worldwide due to its increasing consumer preference and diverse end-usage. Methods and results We developed a set of 33 male sterile genotypes using three cytoplasmic sources (CMS-T, -C, and -S) from 11 diverse maize inbreds and evaluated them for anther exertion and pollen fertility in four di...

Objective Salmonella serovar Typhimurium (S. Typhimurium) and its monophasic variant, Salmonella 4,[5],12:i:-, have become two of the most frequently isolated serovars worldwide, in both humans and animals. This study investigated the antimicrobial resistance and genomic characteristics of these two serovar Salmonella. Methods Between 2021 and 202...

Artificial Intelligence (AI) and Machine Learning (ML) are reshaping the field of biology by providing advanced computational tools to manage, analyze, and interpret complex biological data. As biological research generates increasingly large and multidimensional datasets—from genomic sequences and proteomic profiles to high-resolution imaging—AI a...

Phylodynamics bridges the gap between classical epidemiology and pathogen genome sequence data by estimating epidemiological parameters from time-scaled pathogen phylogenetic trees. The models used in phylodynamics typically assume that the sampling procedure is independent between infected individuals. However, this assumption does not hold for ma...

Objective To provide a comprehensive clinical and genetic characterization of individuals with arthrogryposis multiplex congenita (AMC), focusing on the distribution of genetic etiologies across the neuromuscular spectrum and comparing myogenic and neurogenic subtypes. Methods A total of 105 individuals with AMC were clinically and genetically eva...

Broad bean chocolate spot (BCS) is an economically important disease of broad bean ( Vicia faba ). In 2022, we collected broad bean leaves showing disease symptoms from a field where the typical BCS observed. Isolated fungus exhibited pathogenicity on broad bean leaves, producing with typical BCS symptoms. Whole genome sequencing and phylogenetic a...

The bacteriophage TinyMiny was isolated from a soil sample collected on the campus of the University of Maryland Baltimore County, in Baltimore, Maryland, using the bacterium Microbacterium foliorum NRRL B-24224. TinyMiny is presumed to be a lytic bacteriophage, consisting of a double-stranded DNA genome 57,042 base pairs in length and encoding 86...

Inborn errors of immunity (IEI) are monogenic disorders with a wide spectrum of clinical phenotypes including immune dysregulation, autoimmunity, autoinflammation, and malignancy. IEI may have life-threatening consequences, thus precise and timely genetic diagnosis is crucial for improved access to treatment, genetic counselling and prevention. We...

Pontocerebellar hypoplasia (PCH) encompasses a group of autosomal recessive neurodegenerative disorders marked by cerebellar and pontine atrophy. Multiple subtypes of PCH have been identified, among which the rare subtype PCH type 16 is caused by MINPP1 genetic variants. MINPPI encodes an enzyme essential for inositol polyphosphate dephosphorylatio...

Background The Chao Lay, also known as sea nomads, include the Austronesian-speaking Moken, Moklen, and Urak Lawoi, who traditionally inhabit the coastal regions and islands of the Andaman Sea in southern Thailand. Their maritime lifestyle has attracted significant interest in their genetic origins and relationships with other sea nomad groups in I...

RNA sequencing (RNA-seq) has become key to complementing exome and genome sequencing for variant interpretation. We present a minimally invasive RNA-seq protocol using short-term cultured peripheral blood mononuclear cells (PBMCs) with and without cycloheximide treatment, enabling detection of transcripts subject to nonsense-mediated decay. While b...

Objectives To describe the clinical presentation and response to medication in two cases of self-limiting KCNQ2-related epilepsy. Case presentation Both infants were born at term and had tonic seizures during the first two weeks after birth. The first infant had frequent seizures at presentation requiring two weeks of hospital stay. The second inf...

We present a genome assembly from a female specimen of Cerceris ruficornis (solitary wasp; Arthropoda; Insecta; Hymenoptera; Crabronidae). The genome sequence has a total length of 566.08 megabases, of which 65.35% is scaffolded into 14 chromosomal pseudomolecules. The mitochondrial genome has also been assembled, with a length of 18.07 kilobases....

We report genome sequences of two polar Carnobacterium maltaromaticum strains: 2857 (draft, 3.54 Mb, 34.4% GC) and 2862 (complete, 3.61 Mb, 34.6% GC, five plasmids). Sequencing used Illumina (both) and Nanopore (2862). Genome analysis revealed genes for glycerol conversion to 1,2-propanediol, suggesting potential for sustainable bioprocessing in co...

Here, we report the complete genome sequence of strain M4-SHS-6, a potential chemolithoautotrophic sulfur-oxidizing bacterium. The genome comprises one circular chromosome and two circular plasmids, assembled through hybrid sequencing (Illumina and Nanopore).