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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...
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...
Applicability of epigenetic age models to next-generation methylation arrays
Applicability of epigenetic age models to next-generation methylation arrays
Epigenetic clocks are mathematical models used to estimate epigenetic age based on DNA methylation at specific CpG sites. ...
High density genomic surveillance and risk profiling of clinical Listeria monocytogenes subtypes in Germany
High density genomic surveillance and risk profiling of clinical Listeria monocytogenes subtypes in Germany
Foodborne infections such as listeriosis caused by the bacterium Listeria monocytogenes represent a significant public hea...
Whole genome sequencing analysis identifies sex differences of familial pattern contributing to phenotypic diversity in autism
Whole genome sequencing analysis identifies sex differences of familial pattern contributing to phenotypic diversity in autism
Whole-genome sequencing (WGS) analyses have found higher genetic burden in autistic females compared to males, supporting ...
Combining optical genome mapping and RNA-seq for structural variants detection and interpretation in unsolved neurodevelopmental disorders
Combining optical genome mapping and RNA-seq for structural variants detection and interpretation in unsolved neurodevelopmental disorders
Structural variations (SVs) are key genetic contributors to neurodevelopmental disorders (NDDs). Exome sequencing (ES), th...
Chromatin conformation capture in the clinic: 4C-seq/HiC distinguishes pathogenic from neutral duplications at the GPR101 locus
Chromatin conformation capture in the clinic: 4C-seq/HiC distinguishes pathogenic from neutral duplications at the GPR101 locus
X-linked acrogigantism (X-LAG; MIM: 300942) is a severe form of pituitary gigantism caused by chromosome Xq26.3 duplicatio...
Evaluating metagenomics and targeted approaches for diagnosis and surveillance of viruses
Evaluating metagenomics and targeted approaches for diagnosis and surveillance of viruses
Metagenomics is a powerful approach for the detection of unknown and novel pathogens. Workflows based on Illumina short-re...
Identification of diagnostic candidates in Mendelian disorders using an RNA sequencing-centric approach
Identification of diagnostic candidates in Mendelian disorders using an RNA sequencing-centric approach
RNA sequencing (RNA-seq) is increasingly being used as a complementary tool to DNA sequencing in diagnostics where DNA ana...
Long-term persistence of diverse clones shapes the transmission landscape of invasive Listeria monocytogenes
Long-term persistence of diverse clones shapes the transmission landscape of invasive Listeria monocytogenes
The foodborne bacterium Listeria monocytogenes (Lm) causes a range of diseases, from mild gastroenteritis to invasive infe...
Large-scale copy number alterations are enriched for synthetic viability in BRCA1/BRCA2 tumors
Large-scale copy number alterations are enriched for synthetic viability in BRCA1/BRCA2 tumors
Pathogenic BRCA1 or BRCA2 germline mutations contribute to hereditary breast, ovarian, prostate, and pancreatic cancer. Pa...
Ancestry-aligned polygenic scores combined with conventional risk factors improve prediction of cardiometabolic outcomes in African populations
Ancestry-aligned polygenic scores combined with conventional risk factors improve prediction of cardiometabolic outcomes in African populations
Cardiovascular diseases (CVD) are a major health concern in Africa. Improved identification and treatment of high-risk ind...
Genome Tunisia Project: paving the way for precision medicine in North Africa
Genome Tunisia Project: paving the way for precision medicine in North Africa
Key discoveries and innovations in the field of human genetics have led to the foundation of molecular and personalized me...
Gut microbiome structure and function in asymptomatic diverticulosis
Gut microbiome structure and function in asymptomatic diverticulosis
Colonic diverticulosis, the most common lesion found in routine colonoscopy, affects more than 50% of individuals agedR...
Evolutionary dependency of cancer mutations in gene pairs inferred by nonsynonymous-synonymous mutation ratios
Evolutionary dependency of cancer mutations in gene pairs inferred by nonsynonymous-synonymous mutation ratios
Determining the impact of somatic mutations requires understanding the functional relationship of genes acquiring mutation...
Identification of tumor rejection antigens and the immunologic landscape of medulloblastoma
Identification of tumor rejection antigens and the immunologic landscape of medulloblastoma
The current standard of care treatments for medulloblastoma are insufficient as these do not take tumor heterogeneity into...