Genome Medicine publishes important advances of broad interest in the application of genetics, genomics and multi-omics to understand, diagnose and treat disease. The Journal aims to bridge the basic science and clinical research communities in areas that include, but are not limited to: cancer genomics, immuno-oncology, immunogenomics, infectious disease, microbiome, neurogenomics, systems medicine, clinical genomics, gene therapies, precision medicine, and clinical trials. The Journal content includes original research, method, software, database and guideline articles as well as reviews, opinions and commentaries.
《基因组医学》发表了应用遗传学、基因组学和多组学来理解、诊断和治疗疾病的重要进展。该杂志旨在沟通基础科学和临床研究社区,包括但不限于:癌症基因组学、免疫肿瘤学、免疫基因组学、传染病、微生物组学、神经基因组学、系统医学、临床基因组学、基因治疗、精准医学和临床试验。期刊内容包括原创研究、方法、软件、数据库和指南文章以及评论、观点和评论。
Single-cell analysis reveals congruence between kidney organoids and human fetal kidney
来源期刊:Genome MedicineDOI:10.1186/s13073-019-0615-0
Radiation therapy and anti-tumor immunity: exposing immunogenic mutations to the immune system
来源期刊:Genome MedicineDOI:10.1186/s13073-019-0653-7
Genomics of circadian rhythms in health and disease
来源期刊:Genome MedicineDOI:10.1186/s13073-019-0704-0
Best practices for bioinformatic characterization of neoantigens for clinical utility
来源期刊:Genome MedicineDOI:10.1186/s13073-019-0666-2
BAP1 haploinsufficiency predicts a distinct immunogenic class of malignant peritoneal mesothelioma
来源期刊:Genome MedicineDOI:10.1186/s13073-019-0620-3
Reconstruction of full-length circular RNAs enables isoform-level quantification
来源期刊:Genome MedicineDOI:10.1186/s13073-019-0614-1
Comprehensive characterization of circular RNAs in ~\u20091000 human cancer cell lines
来源期刊:Genome MedicineDOI:10.1186/s13073-019-0663-5
Improved precision of epigenetic clock estimates across tissues and its implication for biological ageing
来源期刊:Genome MedicineDOI:10.1186/s13073-019-0667-1
Somatic mutation and clonal expansions in human tissues
来源期刊:Genome MedicineDOI:10.1186/s13073-019-0648-4
Multi-omics discovery of exome-derived neoantigens in hepatocellular carcinoma
来源期刊:Genome MedicineDOI:10.1186/s13073-019-0636-8
A validated single-cell-based strategy to identify diagnostic and therapeutic targets in complex diseases
来源期刊:Genome MedicineDOI:10.1186/s13073-019-0657-3
Circular RNAs as promising biomarkers in cancer: detection, function, and beyond
来源期刊:Genome MedicineDOI:10.1186/s13073-019-0629-7
Recommendations for application of the functional evidence PS3/BS3 criterion using the ACMG/AMP sequence variant interpretation framework
来源期刊:Genome MedicineDOI:10.1186/s13073-019-0690-2
Artificial intelligence in clinical and genomic diagnostics
来源期刊:Genome MedicineDOI:10.1186/s13073-019-0689-8
Copy number variant and runs of homozygosity detection by microarrays enabled more precise molecular diagnoses in 11,020 clinical exome cases
来源期刊:Genome MedicineDOI:10.1186/s13073-019-0639-5
Is ‘likely pathogenic’ really 90% likely? Reclassification data in ClinVar
来源期刊:Genome MedicineDOI:10.1186/s13073-019-0688-9
Inflammatory cytokines and organ dysfunction associate with the aberrant DNA methylome of monocytes in sepsis
来源期刊:Genome MedicineDOI:10.1186/s13073-019-0674-2
Predispositional genome sequencing in healthy adults: design, participant characteristics, and early outcomes of the PeopleSeq Consortium
来源期刊:Genome MedicineDOI:10.1186/s13073-019-0619-9
Prioritizing putative influential genes in cardiovascular disease susceptibility by applying tissue-specific Mendelian randomization
来源期刊:Genome MedicineDOI:10.1186/s13073-019-0613-2
Exome sequencing in routine diagnostics: a generic test for 254 patients with primary immunodeficiencies
来源期刊:Genome MedicineDOI:10.1186/s13073-019-0649-3
Relating the gut metagenome and metatranscriptome to immunotherapy responses in melanoma patients
来源期刊:Genome MedicineDOI:10.1186/s13073-019-0672-4
Digital twins to personalize medicine
来源期刊:Genome MedicineDOI:10.1186/s13073-019-0701-3
From cytogenetics to cytogenomics: whole-genome sequencing as a first-line test comprehensively captures the diverse spectrum of disease-causing genetic variation underlying intellectual disability
来源期刊:Genome MedicineDOI:10.1186/s13073-019-0675-1
Evolving neoantigen profiles in colorectal cancers with DNA repair defects
来源期刊:Genome MedicineDOI:10.1186/s13073-019-0654-6
Recommendations for the collection and use of multiplexed functional data for clinical variant interpretation
来源期刊:Genome MedicineDOI:10.1186/s13073-019-0698-7
A modular transcriptome map of mature B cell lymphomas
来源期刊:Genome MedicineDOI:10.1186/s13073-019-0637-7
Neoantigens and genome instability: impact on immunogenomic phenotypes and immunotherapy response
来源期刊:Genome MedicineDOI:10.1186/s13073-019-0684-0
A KHDC3L mutation resulting in recurrent hydatidiform mole causes genome-wide DNA methylation loss in oocytes and persistent imprinting defects post-fertilisation
来源期刊:Genome MedicineDOI:10.1186/s13073-019-0694-y
Mapping genetic interactions in cancer: a road to rational combination therapies
来源期刊:Genome MedicineDOI:10.1186/s13073-019-0680-4
Advances in omics-based methods to identify novel targets for malaria and other parasitic protozoan infections
来源期刊:Genome MedicineDOI:10.1186/s13073-019-0673-3
pTuneos: prioritizing tumor neoantigens from next-generation sequencing data
来源期刊:Genome MedicineDOI:10.1186/s13073-019-0679-x
NARD: whole-genome reference panel of 1779 Northeast Asians improves imputation accuracy of rare and low-frequency variants
来源期刊:Genome MedicineDOI:10.1186/s13073-019-0677-z
Dissecting lung development and fibrosis at single-cell resolution
来源期刊:Genome MedicineDOI:10.1186/s13073-019-0645-7
Prioritization of genes driving congenital phenotypes of patients with de novo genomic structural variants
来源期刊:Genome MedicineDOI:10.1186/s13073-019-0692-0
Dissecting the genetic basis of comorbid epilepsy phenotypes in neurodevelopmental disorders
来源期刊:Genome MedicineDOI:10.1186/s13073-019-0678-y
Genomic screening and genomic diagnostic testing—two very different kettles of fish
来源期刊:Genome MedicineDOI:10.1186/s13073-019-0696-9
An epigenome-wide association study of sex-specific chronological ageing
来源期刊:Genome MedicineDOI:10.1186/s13073-019-0693-z
Low coverage whole genome sequencing enables accurate assessment of common variants and calculation of genome-wide polygenic scores
来源期刊:Genome MedicineDOI:10.1186/s13073-019-0682-2
Associating somatic mutations to clinical outcomes: a pan-cancer study of survival time
来源期刊:Genome MedicineDOI:10.1186/s13073-019-0643-9
Exome sequencing reveals a high prevalence of BRCA1 and BRCA2 founder variants in a diverse population-based biobank
来源期刊:Genome MedicineDOI:10.1186/s13073-019-0691-1
Keeping up with the genomes: scaling genomic variant interpretation
来源期刊:Genome MedicineDOI:10.1186/s13073-019-0700-4
Immune receptor repertoires in pediatric and adult acute myeloid leukemia
来源期刊:Genome MedicineDOI:10.1186/s13073-019-0681-3
Translating genomic medicine to the clinic: challenges and opportunities
来源期刊:Genome MedicineDOI:10.1186/s13073-019-0622-1
Hidden Markov models lead to higher resolution maps of mutation signature activity in cancer
来源期刊:Genome MedicineDOI:10.1186/s13073-019-0659-1
Identifying Crohn’s disease signal from variome analysis
来源期刊:Genome MedicineDOI:10.1186/s13073-019-0670-6
The relationship between insomnia and complex diseases—insights from genetic data
来源期刊:Genome MedicineDOI:10.1186/s13073-019-0668-0
Epigenetic therapy of myelodysplastic syndromes connects to cellular differentiation independently of endogenous retroelement derepression
来源期刊:Genome MedicineDOI:10.1186/s13073-019-0707-x
Correction to: De novo and inherited TCF20 pathogenic variants are associated with intellectual disability, dysmorphic features, hypotonia, and neurological impairments with similarities to Smith–Magenis syndrome
来源期刊:Genome MedicineDOI:10.1186/s13073-019-0630-1
Text-mining clinically relevant cancer biomarkers for curation into the CIViC database
来源期刊:Genome MedicineDOI:10.1186/s13073-019-0686-y
Correction to: NSAID use and somatic exomic mutations in Barrett’s esophagus
来源期刊:Genome MedicineDOI:10.1186/s13073-019-0625-y