Works matching IS 1756994X AND DT 2023 AND VI 15 AND IP 1
Results: 119
Systematic analysis of Mendelian disease-associated gene variants reveals new classes of cancer-predisposing genes.
- Published in:
- Genome Medicine, 2023, v. 15, n. 1, p. 1, doi. 10.1186/s13073-023-01252-w
- By:
- Publication type:
- Article
Quantitative thresholds for variant enrichment in 13,845 cases: improving pathogenicity classification in genetic hearing loss.
- Published in:
- Genome Medicine, 2023, v. 15, n. 1, p. 1, doi. 10.1186/s13073-023-01271-7
- By:
- Publication type:
- Article
De novo identification of expressed cancer somatic mutations from single-cell RNA sequencing data.
- Published in:
- Genome Medicine, 2023, v. 15, n. 1, p. 1, doi. 10.1186/s13073-023-01269-1
- By:
- Publication type:
- Article
Beyond the exome: utility of long-read whole genome sequencing in exome-negative autosomal recessive diseases.
- Published in:
- Genome Medicine, 2023, v. 15, n. 1, p. 1, doi. 10.1186/s13073-023-01270-8
- By:
- Publication type:
- Article
Comprehensive assessment of the genetic characteristics of small for gestational age newborns in NICU: from diagnosis of genetic disorders to prediction of prognosis.
- Published in:
- Genome Medicine, 2023, v. 15, n. 1, p. 1, doi. 10.1186/s13073-023-01268-2
- By:
- Publication type:
- Article
Publisher Correction: Analysis of transcriptomic features reveals molecular endotypes of SLE with clinical implications.
- Published in:
- 2023
- By:
- Publication type:
- Correction Notice
Pre-operative clonal hematopoiesis is related to adverse outcome in lung cancer after adjuvant therapy.
- Published in:
- Genome Medicine, 2023, v. 15, n. 1, p. 1, doi. 10.1186/s13073-023-01266-4
- By:
- Publication type:
- Article
Evaluating the use of paralogous protein domains to increase data availability for missense variant classification.
- Published in:
- Genome Medicine, 2023, v. 15, n. 1, p. 1, doi. 10.1186/s13073-023-01264-6
- By:
- Publication type:
- Article
Acute ischemia induces spatially and transcriptionally distinct microglial subclusters.
- Published in:
- Genome Medicine, 2023, v. 15, n. 1, p. 1, doi. 10.1186/s13073-023-01257-5
- By:
- Publication type:
- Article
Acute ischemia induces spatially and transcriptionally distinct microglial subclusters.
- Published in:
- Genome Medicine, 2023, v. 15, n. 1, p. 1, doi. 10.1186/s13073-023-01257-5
- By:
- Publication type:
- Article
Prenatal BRCA1 epimutations contribute significantly to triple-negative breast cancer development.
- Published in:
- Genome Medicine, 2023, v. 15, n. 1, p. 1, doi. 10.1186/s13073-023-01262-8
- By:
- Publication type:
- Article
Mendelian randomization analyses suggest a causal role for circulating GIP and IL-1RA levels in homeostatic model assessment-derived measures of β-cell function and insulin sensitivity in Africans without type 2 diabetes.
- Published in:
- Genome Medicine, 2023, v. 15, n. 1, p. 1, doi. 10.1186/s13073-023-01263-7
- By:
- Publication type:
- Article
Mobilizable plasmids drive the spread of antimicrobial resistance genes and virulence genes in Klebsiella pneumoniae.
- Published in:
- Genome Medicine, 2023, v. 15, n. 1, p. 1, doi. 10.1186/s13073-023-01260-w
- By:
- Publication type:
- Article
Personalized tumor combination therapy optimization using the single-cell transcriptome.
- Published in:
- Genome Medicine, 2023, v. 15, n. 1, p. 1, doi. 10.1186/s13073-023-01256-6
- By:
- Publication type:
- Article
Genome-wide prediction of pathogenic gain- and loss-of-function variants from ensemble learning of a diverse feature set.
- Published in:
- Genome Medicine, 2023, v. 15, n. 1, p. 1, doi. 10.1186/s13073-023-01261-9
- By:
- Publication type:
- Article
The role of admixture in the rare variant contribution to inflammatory bowel disease.
- Published in:
- Genome Medicine, 2023, v. 15, n. 1, p. 1, doi. 10.1186/s13073-023-01244-w
- By:
- Publication type:
- Article
A phenome-wide scan reveals convergence of common and rare variant associations.
- Published in:
- Genome Medicine, 2023, v. 15, n. 1, p. 1, doi. 10.1186/s13073-023-01253-9
- By:
- Publication type:
- Article
GITR and TIGIT immunotherapy provokes divergent multicellular responses in the tumor microenvironment of gastrointestinal cancers.
- Published in:
- Genome Medicine, 2023, v. 15, n. 1, p. 1, doi. 10.1186/s13073-023-01259-3
- By:
- Publication type:
- Article
Massive underrepresentation of Arabs in genomic studies of common disease.
- Published in:
- Genome Medicine, 2023, v. 15, n. 1, p. 1, doi. 10.1186/s13073-023-01254-8
- By:
- Publication type:
- Article
Loss of p53-DREAM-mediated repression of cell cycle genes as a driver of lymph node metastasis in head and neck cancer.
- Published in:
- Genome Medicine, 2023, v. 15, n. 1, p. 1, doi. 10.1186/s13073-023-01236-w
- By:
- Publication type:
- Article
Evaluating the association of biallelic OGDHL variants with significant phenotypic heterogeneity.
- Published in:
- Genome Medicine, 2023, v. 15, n. 1, p. 1, doi. 10.1186/s13073-023-01258-4
- By:
- Publication type:
- Article
Skeletal muscle regeneration failure in ischemic-damaged limbs is associated with pro-inflammatory macrophages and premature differentiation of satellite cells.
- Published in:
- Genome Medicine, 2023, v. 15, n. 1, p. 1, doi. 10.1186/s13073-023-01250-y
- By:
- Publication type:
- Article
Rapid profiling of Plasmodium parasites from genome sequences to assist malaria control.
- Published in:
- Genome Medicine, 2023, v. 15, n. 1, p. 1, doi. 10.1186/s13073-023-01247-7
- By:
- Publication type:
- Article
Structural and non-coding variants increase the diagnostic yield of clinical whole genome sequencing for rare diseases.
- Published in:
- Genome Medicine, 2023, v. 15, n. 1, p. 1, doi. 10.1186/s13073-023-01240-0
- By:
- Publication type:
- Article
Early detection of hepatocellular carcinoma via no end-repair enzymatic methylation sequencing of cell-free DNA and pre-trained neural network.
- Published in:
- Genome Medicine, 2023, v. 15, n. 1, p. 1, doi. 10.1186/s13073-023-01238-8
- By:
- Publication type:
- Article
Building blocks for better biorepositories in Africa.
- Published in:
- Genome Medicine, 2023, v. 15, n. 1, p. 1, doi. 10.1186/s13073-023-01235-x
- By:
- Publication type:
- Article
Annotation of cell types (ACT): a convenient web server for cell type annotation.
- Published in:
- Genome Medicine, 2023, v. 15, n. 1, p. 1, doi. 10.1186/s13073-023-01249-5
- By:
- Publication type:
- Article
Multi-scale characterisation of homologous recombination deficiency in breast cancer.
- Published in:
- Genome Medicine, 2023, v. 15, n. 1, p. 1, doi. 10.1186/s13073-023-01239-7
- By:
- Publication type:
- Article
DeepGAMI: deep biologically guided auxiliary learning for multimodal integration and imputation to improve genotype–phenotype prediction.
- Published in:
- Genome Medicine, 2023, v. 15, n. 1, p. 1, doi. 10.1186/s13073-023-01248-6
- By:
- Publication type:
- Article
Polygenic risk scores for disease risk prediction in Africa: current challenges and future directions.
- Published in:
- Genome Medicine, 2023, v. 15, n. 1, p. 1, doi. 10.1186/s13073-023-01245-9
- By:
- Publication type:
- Article
Analysis of transcriptomic features reveals molecular endotypes of SLE with clinical implications.
- Published in:
- Genome Medicine, 2023, v. 15, n. 1, p. 1, doi. 10.1186/s13073-023-01237-9
- By:
- Publication type:
- Article
Loss of p53-DREAM-mediated repression of cell cycle genes as a driver of lymph node metastasis in head and neck cancer.
- Published in:
- Genome Medicine, 2023, v. 15, n. 1, p. 1, doi. 10.1186/s13073-023-01236-w
- By:
- Publication type:
- Article
Beyond gene-disease validity: capturing structured data on inheritance, allelic requirement, disease-relevant variant classes, and disease mechanism for inherited cardiac conditions.
- Published in:
- Genome Medicine, 2023, v. 15, n. 1, p. 1, doi. 10.1186/s13073-023-01246-8
- By:
- Publication type:
- Article
Recommendations for the classification of germline variants in the exonuclease domain of POLE and POLD1.
- Published in:
- Genome Medicine, 2023, v. 15, n. 1, p. 1, doi. 10.1186/s13073-023-01234-y
- By:
- Publication type:
- Article
Single-cell RNA sequencing distinctly characterizes the wide heterogeneity in pediatric mixed phenotype acute leukemia.
- Published in:
- Genome Medicine, 2023, v. 15, n. 1, p. 1, doi. 10.1186/s13073-023-01241-z
- By:
- Publication type:
- Article
Bacterial genome-wide association study substantiates papGII of Escherichia coli as a major risk factor for urosepsis.
- Published in:
- Genome Medicine, 2023, v. 15, n. 1, p. 1, doi. 10.1186/s13073-023-01243-x
- By:
- Publication type:
- Article
Global analysis of suppressor mutations that rescue human genetic defects.
- Published in:
- Genome Medicine, 2023, v. 15, n. 1, p. 1, doi. 10.1186/s13073-023-01232-0
- By:
- Publication type:
- Article
Genomic architecture of autism spectrum disorder in Qatar: The BARAKA-Qatar Study.
- Published in:
- Genome Medicine, 2023, v. 15, n. 1, p. 1, doi. 10.1186/s13073-023-01228-w
- By:
- Publication type:
- Article
Small extrachromosomal circular DNA harboring targeted tumor suppressor gene mutations supports intratumor heterogeneity in mouse liver cancer induced by multiplexed CRISPR/Cas9.
- Published in:
- Genome Medicine, 2023, v. 15, n. 1, p. 1, doi. 10.1186/s13073-023-01230-2
- By:
- Publication type:
- Article
Multivariate GWAS of Alzheimer's disease CSF biomarker profiles implies GRIN2D in synaptic functioning.
- Published in:
- Genome Medicine, 2023, v. 15, n. 1, p. 1, doi. 10.1186/s13073-023-01233-z
- By:
- Publication type:
- Article
Meiotic and mitotic aneuploidies drive arrest of in vitro fertilized human preimplantation embryos.
- Published in:
- Genome Medicine, 2023, v. 15, n. 1, p. 1, doi. 10.1186/s13073-023-01231-1
- By:
- Publication type:
- Article
Meiotic and mitotic aneuploidies drive arrest of in vitro fertilized human preimplantation embryos.
- Published in:
- Genome Medicine, 2023, v. 15, n. 1, p. 1, doi. 10.1186/s13073-023-01231-1
- By:
- Publication type:
- Article
Long-read sequencing reveals the landscape of aberrant alternative splicing and novel therapeutic target in colorectal cancer.
- Published in:
- Genome Medicine, 2023, v. 15, n. 1, p. 1, doi. 10.1186/s13073-023-01226-y
- By:
- Publication type:
- Article
Integrated study of systemic and local airway transcriptomes in asthma reveals causal mediation of systemic effects by airway key drivers.
- Published in:
- Genome Medicine, 2023, v. 15, n. 1, p. 1, doi. 10.1186/s13073-023-01222-2
- By:
- Publication type:
- Article
Identification of novel protein biomarkers and drug targets for colorectal cancer by integrating human plasma proteome with genome.
- Published in:
- Genome Medicine, 2023, v. 15, n. 1, p. 1, doi. 10.1186/s13073-023-01229-9
- By:
- Publication type:
- Article
Identification of novel genetic risk factors of dilated cardiomyopathy: from canine to human.
- Published in:
- Genome Medicine, 2023, v. 15, n. 1, p. 1, doi. 10.1186/s13073-023-01221-3
- By:
- Publication type:
- Article
Spatial transcriptomics analysis of neoadjuvant cabozantinib and nivolumab in advanced hepatocellular carcinoma identifies independent mechanisms of resistance and recurrence.
- Published in:
- Genome Medicine, 2023, v. 15, n. 1, p. 1, doi. 10.1186/s13073-023-01218-y
- By:
- Publication type:
- Article
A robust deep learning workflow to predict CD8 + T-cell epitopes.
- Published in:
- Genome Medicine, 2023, v. 15, n. 1, p. 1, doi. 10.1186/s13073-023-01225-z
- By:
- Publication type:
- Article
Transcriptional immunogenomic analysis reveals distinct immunological clusters in paediatric nervous system tumours.
- Published in:
- Genome Medicine, 2023, v. 15, n. 1, p. 1, doi. 10.1186/s13073-023-01219-x
- By:
- Publication type:
- Article
SARS-CoV-2 infection induces a long-lived pro-inflammatory transcriptional profile.
- Published in:
- Genome Medicine, 2023, v. 15, n. 1, p. 1, doi. 10.1186/s13073-023-01227-x
- By:
- Publication type:
- Article