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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...
Identification of pathological pathways centered on circRNA dysregulation in association with irreversible progression of Alzheimer’s disease
Identification of pathological pathways centered on circRNA dysregulation in association with irreversible progression of Alzheimer’s disease
Circular RNAs (circRNAs) are highly stable regulators, often accumulated in mammalian brains and thought to serve as ̶...
Exploring multi-omics and clinical characteristics linked to accelerated biological aging in Asian women of reproductive age: insights from the S-PRESTO study
Exploring multi-omics and clinical characteristics linked to accelerated biological aging in Asian women of reproductive age: insights from the S-PRESTO study
Phenotypic age (PhenoAge), a widely used marker of biological aging, has been shown to be a robust predictor of all-cause ...
Curating genomic disease-gene relationships with Gene2Phenotype (G2P)
Curating genomic disease-gene relationships with Gene2Phenotype (G2P)
Genetically determined disorders are highly heterogenous in clinical presentation and underlying molecular mechanism. The ...
A genome-based survey of invasive pneumococci in Norway over four decades reveals lineage-specific responses to vaccination
A genome-based survey of invasive pneumococci in Norway over four decades reveals lineage-specific responses to vaccination
Streptococcus pneumoniae is a major cause of mortality globally. The introduction of pneumococcal conjugate vaccines (PCVs...
Cardiomyopathies in 100,000 genomes project: interval evaluation improves diagnostic yield and informs strategies for ongoing gene discovery
Cardiomyopathies in 100,000 genomes project: interval evaluation improves diagnostic yield and informs strategies for ongoing gene discovery
Cardiomyopathies are clinically important conditions, with a strong genetic component. National genomic initiatives such a...
Circular RNA landscape in extracellular vesicles from human biofluids
Circular RNA landscape in extracellular vesicles from human biofluids
Circular RNAs (circRNAs) have emerged as a prominent class of covalently closed single-stranded RNA molecules that exhibit...
Pathological mechanisms and candidate therapeutic approaches in the hearing loss of mice carrying human MIR96 mutations
Pathological mechanisms and candidate therapeutic approaches in the hearing loss of mice carrying human MIR96 mutations
Progressive hearing loss is a common problem in the human population with no effective therapeutics currently available. H...
Multiomic integration analysis identifies atherogenic metabolites mediating between novel immune genes and cardiovascular risk
Multiomic integration analysis identifies atherogenic metabolites mediating between novel immune genes and cardiovascular risk
Understanding genetic-metabolite associations has translational implications for informing cardiovascular risk assessment....
Developmental-status-aware transcriptional decomposition establishes a cell state panorama of human cancers
Developmental-status-aware transcriptional decomposition establishes a cell state panorama of human cancers
Cancer cells evolve under unique functional adaptations that unlock transcriptional programs embedded in adult stem and pr...
Nanopore sequencing with unique molecular identifiers enables accurate mutation analysis and haplotyping in the complex lipoprotein(a) KIV-2 VNTR
Nanopore sequencing with unique molecular identifiers enables accurate mutation analysis and haplotyping in the complex lipoprotein(a) KIV-2 VNTR
Repetitive genome regions, such as variable number of tandem repeats (VNTR) or short tandem repeats (STR), are major const...
DNA demethylation triggers cell free DNA release in colorectal cancer cells
DNA demethylation triggers cell free DNA release in colorectal cancer cells
Liquid biopsy based on cell-free DNA (cfDNA) analysis holds significant promise as a minimally invasive approach for the d...
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