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Molecular profiling of human non-small cell lung cancer by single-cell RNA-seq

期刊: GENOME MEDICINE, 2022; 14 (1)

Background Lung cancer, one of the most common malignant tumors, exhibits high inter- and intra-tumor heterogeneity which contributes significantly to......

JIF:7.937

Single-cell genomic and transcriptomic landscapes of primary and metastatic colorectal cancer tumors

期刊: GENOME MEDICINE, 2022; 14 (1)

Background Colorectal cancer (CRC) ranks as the second-leading cause of cancer-related death worldwide with metastases being the main cause of cancer-......

JIF:7.937

Ontology-aware deep learning enables ultrafast and interpretable source tracking among sub-million microbial community samples from hundreds of niches

期刊: GENOME MEDICINE, 2022; 14 (1)

The taxonomic structure of microbial community sample is highly habitat-specific, making source tracking possible, allowing identification of the nich......

JIF:7.937

CTpathway: a CrossTalk-based pathway enrichment analysis method for cancer research

期刊: GENOME MEDICINE, 2022; 14 (1)

Background: Pathway enrichment analysis (PEA) is a common method for exploring functions of hundreds of genes and identifying disease-risk pathways. M......

JIF:7.937

Clinical implementation of RNA sequencing for Mendelian disease diagnostics

期刊: GENOME MEDICINE, 2022; 14 (1)

Background Lack of functional evidence hampers variant interpretation, leaving a large proportion of individuals with a suspected Mendelian disorder w......

JIF:7.937

Integrated analysis of single-cell and bulk RNA sequencing data reveals a pan-cancer stemness signature predicting immunotherapy response

期刊: GENOME MEDICINE, 2022; 14 (1)

Background Although immune checkpoint inhibitor (ICI) is regarded as a breakthrough in cancer therapy, only a limited fraction of patients benefit fro......

JIF:7.937

Multi-region sequencing with spatial information enables accurate heterogeneity estimation and risk stratification in liver cancer

期刊: GENOME MEDICINE, 2022; 14 (1)

Background: Numerous studies have used multi-region sampling approaches to characterize intra-tumor heterogeneity (ITH) in hepatocellular carcinoma (H......

JIF:7.937

Neutralization sensitivity, fusogenicity, and infectivity of Omicron subvariants

期刊: GENOME MEDICINE, 2022; 14 (1)

Background: The emergence of SARS-CoV-2 Omicron subvariants has raised questions regarding resistance to immunity by natural infection or immunization......

JIF:7.937

DrABC: deep learning accurately predicts germline pathogenic mutation status in breast cancer patients based on phenotype data

期刊: GENOME MEDICINE, 2022; 14 (1)

Background: Identifying breast cancer patients with DNA repair pathway-related germline pathogenic variants (GPVs) is important for effectively employ......

JIF:7.937

A mutation-based gene set predicts survival benefit after immunotherapy across multiple cancers and reveals the immune response landscape

期刊: GENOME MEDICINE, 2022; 14 (1)

Background Immune checkpoint inhibitor (ICI) therapy has revolutionized the treatment of many cancers. However, the limited population that benefits f......

JIF:7.937

Single-cell transcriptomics reveal a unique memory-like NK cell subset that accumulates with ageing and correlates with disease severity in COVID-19

期刊: GENOME MEDICINE, 2022; 14 (1)

Background Natural killer (NK) cells are innate lymphoid cells that mediate antitumour and antiviral responses. However, very little is known about ho......

JIF:7.937

Functional genomic analysis delineates regulatory mechanisms of GWAS-identified bipolar disorder risk variants

期刊: GENOME MEDICINE, 2022; 14 (1)

Background Genome-wide association studies (GWASs) have identified multiple risk loci for bipolar disorder (BD). However, pinpointing functional (or c......

JIF:7.937

Integrating single-cell sequencing data with GWAS summary statistics reveals CD16+monocytes and memory CD8+T cells involved in severe COVID-19

期刊: GENOME MEDICINE, 2022; 14 (1)

Background Understanding the host genetic architecture and viral immunity contributes to the development of effective vaccines and therapeutics for co......

JIF:7.937

Application of exome sequencing for prenatal diagnosis of fetal structural anomalies: clinical experience and lessons learned from a cohort of 1618 fetuses

期刊: GENOME MEDICINE, 2022; 14 (1)

Background Exome sequencing (ES) is becoming more widely available in prenatal diagnosis. However, data on its clinical utility and integration into c......

JIF:7.937

Ganciclovir-induced mutations are present in a diverse spectrum of post-transplant malignancies

期刊: GENOME MEDICINE, 2022; 14 (1)

Background Ganciclovir (GCV) is widely used in solid organ and haematopoietic stem cell transplant patients for prophylaxis and treatment of cytomegal......

JIF:7.937

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