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Intricate interplay of CRISPR-Cas systems, anti-CRISPR proteins, and antimicrobial resistance genes in a globally successful multi-drug resistant Klebsiella pneumoniae clone
Intricate interplay of CRISPR-Cas systems, anti-CRISPR proteins, and antimicrobial resistance genes in a globally successful multi-drug resistant Klebsiella pneumoniae clone
Klebsiella pneumoniae is one of the most prevalent pathogens responsible for multiple infections in healthcare settings an...
A new method for detecting mixed Mycobacterium tuberculosis infection and reconstructing constituent strains provides insights into transmission
A new method for detecting mixed Mycobacterium tuberculosis infection and reconstructing constituent strains provides insights into transmission
Mixed infection with multiple strains of the same pathogen in a single host can present clinical and analytical challenges...
Meta-analyses of mouse and human prostate single-cell transcriptomes reveal widespread epithelial plasticity in tissue regression, regeneration, and cancer
Meta-analyses of mouse and human prostate single-cell transcriptomes reveal widespread epithelial plasticity in tissue regression, regeneration, and cancer
Despite extensive analysis, the dynamic changes in prostate epithelial cell states during tissue homeostasis as well as tu...
Integrating pharmacogenomics and cheminformatics with diverse disease phenotypes for cell type-guided drug discovery
Integrating pharmacogenomics and cheminformatics with diverse disease phenotypes for cell type-guided drug discovery
Large-scale pharmacogenomic resources, such as the Connectivity Map (CMap), have greatly assisted computational drug disco...
Nanopore-based random genomic sampling for intraoperative molecular diagnosis
Nanopore-based random genomic sampling for intraoperative molecular diagnosis
Central nervous system tumors are among the most lethal types of cancer. A critical factor for tailored neurosurgical rese...
A rare haplotype of the GJD3 gene segregating in familial Meniere’s disease interferes with connexin assembly
A rare haplotype of the GJD3 gene segregating in familial Meniere’s disease interferes with connexin assembly
Familial Meniere’s disease (FMD) is a rare polygenic disorder of the inner ear. Mutations in the connexin gene famil...
TP53 germline testing and hereditary cancer: how somatic events and clinical criteria affect variant detection rate
TP53 germline testing and hereditary cancer: how somatic events and clinical criteria affect variant detection rate
Germline heterozygous pathogenic variants (PVs) in TP53 cause Li-Fraumeni syndrome (LFS), a condition associated with incr...
SenPred: a single-cell RNA sequencing-based machine learning pipeline to classify deeply senescent dermal fibroblast cells for the detection of an in vivo senescent cell burden
SenPred: a single-cell RNA sequencing-based machine learning pipeline to classify deeply senescent dermal fibroblast cells for the detection of an in vivo senescent cell burden
Senescence classification is an acknowledged challenge within the field, as markers are cell-type and context dependent. C...
Clinical evaluation of long-read sequencing-based episignature detection in developmental disorders
Clinical evaluation of long-read sequencing-based episignature detection in developmental disorders
A subset of developmental disorders (DD) is characterized by disease-specific genome-wide methylation changes. These episi...
The role of gut microbiota in the pathogenesis of diverticular disease: where are we now?
The role of gut microbiota in the pathogenesis of diverticular disease: where are we now?
Diverticular disease (DD) is widespread worldwide. The role of gut microbiota (GM) in DD is not entirely understood. &...
Interpretation and classification of FBN1 variants associated with Marfan syndrome: consensus recommendations from the Clinical Genome Resource’s FBN1 variant curation expert panel
Interpretation and classification of FBN1 variants associated with Marfan syndrome: consensus recommendations from the Clinical Genome Resource’s FBN1 variant curation expert panel
In 2015, the American College of Medical Genetics and Genomics (ACMG) and the Association for Molecular Pathology (AMP) de...
A tool for CRISPR-Cas9 sgRNA evaluation based on computational models of gene expression
A tool for CRISPR-Cas9 sgRNA evaluation based on computational models of gene expression
CRISPR is widely used to silence genes by inducing mutations expected to nullify their expression. While numerous computat...
Tracing carriage, acquisition, and transmission of ESBL-producing Escherichia coli over two years in a tertiary care hospital
Tracing carriage, acquisition, and transmission of ESBL-producing Escherichia coli over two years in a tertiary care hospital
The impact of community carriage on the influx of extended-spectrum beta-lactamase-producing Enterobacterales (ESBL-E) int...
HGVS Nomenclature 2024: improvements to community engagement, usability, and computability
HGVS Nomenclature 2024: improvements to community engagement, usability, and computability
The Human Genome Variation Society (HGVS) Nomenclature is the global standard for describing and communicating variants in...
Spatial transcriptome profiling identifies DTX3L and BST2 as key biomarkers in esophageal squamous cell carcinoma tumorigenesis
Spatial transcriptome profiling identifies DTX3L and BST2 as key biomarkers in esophageal squamous cell carcinoma tumorigenesis
Understanding the stepwise progression of esophageal squamous cell carcinoma (ESCC) is crucial for developing customized s...
Structural variant allelic heterogeneity in MECP2 duplication syndrome provides insight into clinical severity and variability of disease expression
Structural variant allelic heterogeneity in MECP2 duplication syndrome provides insight into clinical severity and variability of disease expression
MECP2 Duplication Syndrome, also known as X-linked intellectual developmental disorder Lubs type (MRXSL; MIM: 300260), is ...
Patterns of genomic instability in > 2000 patients with ovarian cancer across six clinical trials evaluating olaparib
Patterns of genomic instability in > 2000 patients with ovarian cancer across six clinical trials evaluating olaparib
The introduction of poly(ADP-ribose) polymerase (PARP) inhibitors represented a paradigm shift in the treatment of ovarian...
SARS-CoV-2 introductions to the island of Ireland: a phylogenetic and geospatiotemporal study of infection dynamics
SARS-CoV-2 introductions to the island of Ireland: a phylogenetic and geospatiotemporal study of infection dynamics
Ireland’s COVID-19 response combined extensive SARS-CoV-2 testing to estimate incidence, with whole genome sequencin...
SiRCle (Signature Regulatory Clustering) model integration reveals mechanisms of phenotype regulation in renal cancer
SiRCle (Signature Regulatory Clustering) model integration reveals mechanisms of phenotype regulation in renal cancer
Clear cell renal cell carcinoma (ccRCC) tumours develop and progress via complex remodelling of the kidney epigenome, tran...
Revisiting mutational resistance to ampicillin and cefotaxime in Haemophilus influenzae
Revisiting mutational resistance to ampicillin and cefotaxime in Haemophilus influenzae
Haemophilus influenzae is an opportunistic bacterial pathogen that can cause severe respiratory tract and invasive infecti...
Comprehensive pathogen identification and antimicrobial resistance prediction from positive blood cultures using nanopore sequencing technology
Comprehensive pathogen identification and antimicrobial resistance prediction from positive blood cultures using nanopore sequencing technology
Blood cultures are essential for diagnosing bloodstream infections, but current phenotypic tests for antimicrobial resista...
Using multiplexed functional data to reduce variant classification inequities in underrepresented populations
Using multiplexed functional data to reduce variant classification inequities in underrepresented populations
Multiplexed Assays of Variant Effects (MAVEs) can test all possible single variants in a gene of interest. The resulting s...
Genome-aware annotation of CRISPR guides validates targets in variant cell lines and enhances discovery in screens
Genome-aware annotation of CRISPR guides validates targets in variant cell lines and enhances discovery in screens
CRISPR-Cas9 technology has revolutionised genetic screens and can inform on gene essentiality and chemo-genetic interactio...
Integrated analyses of multi-omic data derived from paired primary lung cancer and brain metastasis reveal the metabolic vulnerability as a novel therapeutic target
Integrated analyses of multi-omic data derived from paired primary lung cancer and brain metastasis reveal the metabolic vulnerability as a novel therapeutic target
Lung cancer brain metastases (LC-BrMs) are frequently associated with dismal mortality rates in patients with lung cancer;...
Mapping in silico genetic networks of the KMT2D tumour suppressor gene to uncover novel functional associations and cancer cell vulnerabilities
Mapping in silico genetic networks of the KMT2D tumour suppressor gene to uncover novel functional associations and cancer cell vulnerabilities
Loss-of-function (LOF) alterations in tumour suppressor genes cannot be directly targeted. Approaches characterising gene ...
Epigenetic age and long-term cancer risk following a stroke
Epigenetic age and long-term cancer risk following a stroke
The association between increased cancer risk following a cerebrovascular event (CVE) has been previously reported. We hyp...
Integrated single-cell analysis reveals distinct epigenetic-regulated cancer cell states and a heterogeneity-guided core signature in tamoxifen-resistant breast cancer
Integrated single-cell analysis reveals distinct epigenetic-regulated cancer cell states and a heterogeneity-guided core signature in tamoxifen-resistant breast cancer
Inter- and intra-tumor heterogeneity is considered a significant factor contributing to the development of endocrine resis...
pVACview: an interactive visualization tool for efficient neoantigen prioritization and selection
pVACview: an interactive visualization tool for efficient neoantigen prioritization and selection
Neoantigen-targeting therapies including personalized vaccines have shown promise in the treatment of cancers, particularl...
Neoantigen DNA vaccines are safe, feasible, and induce neoantigen-specific immune responses in triple-negative breast cancer patients
Neoantigen DNA vaccines are safe, feasible, and induce neoantigen-specific immune responses in triple-negative breast cancer patients
Neoantigen vaccines can induce or enhance highly specific antitumor immune responses with minimal risk of autoimmunity. We...
Efficacy and safety of novel multiple-chain DAP-CAR-T cells targeting mesothelin in ovarian cancer and mesothelioma: a single-arm, open-label and first-in-human study
Efficacy and safety of novel multiple-chain DAP-CAR-T cells targeting mesothelin in ovarian cancer and mesothelioma: a single-arm, open-label and first-in-human study
Despite remarkable achievements in applying chimeric antigen receptor (CAR)-T cells to treat hematological malignancies, t...
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