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Whole-exome sequencing identifies novel protein-altering variants associated with serum apolipoprotein and lipid concentrations
Whole-exome sequencing identifies novel protein-altering variants associated with serum apolipoprotein and lipid concentrations
Dyslipidemia is a major risk factor for cardiovascular disease, and diabetes impacts the lipid metabolism through multiple...
Illuminating links between cis-regulators and trans-acting variants in the human prefrontal cortex
Illuminating links between cis-regulators and trans-acting variants in the human prefrontal cortex
Neuropsychiatric disorders afflict a large portion of the global population and constitute a significant source of disabil...
Extracellular matrix profiles determine risk and prognosis of the squamous cell carcinoma subtype of non-small cell lung carcinoma
Extracellular matrix profiles determine risk and prognosis of the squamous cell carcinoma subtype of non-small cell lung carcinoma
Squamous cell carcinoma (SqCC) is a subtype of non-small cell lung cancer for which patient prognosis remains poor. The ex...
Towards elucidating disease-relevant states of neurons and glia by CRISPR-based functional genomics
Towards elucidating disease-relevant states of neurons and glia by CRISPR-based functional genomics
Our understanding of neurological diseases has been tremendously enhanced over the past decade by the application of new t...
Genomic and transcriptomic analysis of a diffuse pleural mesothelioma patient-derived xenograft library
Genomic and transcriptomic analysis of a diffuse pleural mesothelioma patient-derived xenograft library
Diffuse pleural mesothelioma (DPM) is an aggressive malignancy that, despite recent treatment advances, has unacceptably p...
Universal clinical Parkinson’s disease axes identify a major influence of neuroinflammation
Universal clinical Parkinson’s disease axes identify a major influence of neuroinflammation
There is large individual variation in both clinical presentation and progression between Parkinson’s disease patien...
Network reconstruction for trans acting genetic loci using multi-omics data and prior information
Network reconstruction for trans acting genetic loci using multi-omics data and prior information
Molecular measurements of the genome, the transcriptome, and the epigenome, often termed multi-omics data, provide an in-d...
Ganciclovir-induced mutations are present in a diverse spectrum of post-transplant malignancies
Ganciclovir-induced mutations are present in a diverse spectrum of post-transplant malignancies
Ganciclovir (GCV) is widely used in solid organ and haematopoietic stem cell transplant patients for prophylaxis and treat...
The lung microbiome, peripheral gene expression, and recurrence-free survival after resection of stage II non-small cell lung cancer
The lung microbiome, peripheral gene expression, and recurrence-free survival after resection of stage II non-small cell lung cancer
Cancer recurrence after tumor resection in early-stage non-small cell lung cancer (NSCLC) is common, yet difficult to pred...
The WID-CIN test identifies women with, and at risk of, cervical intraepithelial neoplasia grade 3 and invasive cervical cancer
The WID-CIN test identifies women with, and at risk of, cervical intraepithelial neoplasia grade 3 and invasive cervical cancer
Cervical screening is transitioning from primary cytology to primary human papillomavirus (HPV) testing. HPV testing is hi...
Patient and provider perspectives on polygenic risk scores: implications for clinical reporting and utilization
Patient and provider perspectives on polygenic risk scores: implications for clinical reporting and utilization
Polygenic risk scores (PRS), which offer information about genomic risk for common diseases, have been proposed for clinic...
MetaRNN: differentiating rare pathogenic and rare benign missense SNVs and InDels using deep learning
MetaRNN: differentiating rare pathogenic and rare benign missense SNVs and InDels using deep learning
Multiple computational approaches have been developed to improve our understanding of genetic variants. However, their abi...
Correction: Elucidating the diversity of malignant mesenchymal states in glioblastoma by integrative analysis
Correction: Elucidating the diversity of malignant mesenchymal states in glioblastoma by integrative analysis
Open Access This article is licensed under a Creative Commons Attribution 4.0 International License, whi...
CTpathway: a CrossTalk-based pathway enrichment analysis method for cancer research
CTpathway: a CrossTalk-based pathway enrichment analysis method for cancer research
Pathway enrichment analysis (PEA) is a common method for exploring functions of hundreds of genes and identifying disease-...
Longitudinal multi-omics analysis identifies early blood-based predictors of anti-TNF therapy response in inflammatory bowel disease
Longitudinal multi-omics analysis identifies early blood-based predictors of anti-TNF therapy response in inflammatory bowel disease
Treatment with tumor necrosis factor α (TNFα) antagonists in IBD patients suffers from primary non-response rate...
Transcriptional signatures of the BCL2 family for individualized acute myeloid leukaemia treatment
Transcriptional signatures of the BCL2 family for individualized acute myeloid leukaemia treatment
Although anti-apoptotic proteins of the B-cell lymphoma-2 (BCL2) family have been utilized as therapeutic targets in acute...
African-specific alleles modify risk for asthma at the 17q12-q21 locus in African Americans
African-specific alleles modify risk for asthma at the 17q12-q21 locus in African Americans
Asthma is the most common chronic disease in children, occurring at higher frequencies and with more severe disease in chi...
Intratumor heterogeneity and T cell exhaustion in primary CNS lymphoma
Intratumor heterogeneity and T cell exhaustion in primary CNS lymphoma
Primary central nervous system lymphoma (PCNSL) is a rare lymphoma of the central nervous system, usually of diffuse large...
Clinical trial design in the era of precision medicine
Clinical trial design in the era of precision medicine
Recent rapid biotechnological breakthroughs have led to the identification of complex and unique molecular features that d...
Clinical implications of host genetic variation and susceptibility to severe or critical COVID-19
Clinical implications of host genetic variation and susceptibility to severe or critical COVID-19
Since the start of the coronavirus disease 2019 (COVID-19) pandemic, important insights have been gained into virus biolog...
Molecular profiling of human non-small cell lung cancer by single-cell RNA-seq
Molecular profiling of human non-small cell lung cancer by single-cell RNA-seq
Lung cancer, one of the most common malignant tumors, exhibits high inter- and intra-tumor heterogeneity which contributes...
Diagnostic yield and clinical relevance of expanded genetic testing for cancer patients
Diagnostic yield and clinical relevance of expanded genetic testing for cancer patients
Genetic testing (GT) for hereditary cancer predisposition is traditionally performed on selected genes based on establishe...
Improved SARS-CoV-2 sequencing surveillance allows the identification of new variants and signatures in infected patients
Improved SARS-CoV-2 sequencing surveillance allows the identification of new variants and signatures in infected patients
Genomic surveillance of severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) is the only approach to rapidly monit...