解剖学和形态学
麻醉学
听力与言语-语言病理学
行为科学
心脏和心血管系统
细胞和组织工程学
临床神经病学
危重症监护医学
牙科,口腔外科和医学
皮肤病学
急诊医学
内分泌学和新陈代谢
肠胃学和肝脏学
老人病学和老年医学
卫生保健科学和服务
血液学
免疫学
传染病
综合和补充性医学
医学伦理学
医学信息学
医学实验室技术
医学,全科和内科
医学,法律
医学,研究和试验
神经系统科学
护理
营养学和饮食学
产科医学和妇科医学
肿瘤学
眼科学
整形外科学
耳鼻喉科学
病理学
儿科学
周围血管疾病
药理学和药剂学
生理学
基本医疗保健
精神病学
公共、环境和职业卫生
放射学,核医学和医学成像
康复学
生殖生物学
呼吸系统
风湿病学
运动科学
外科学
毒理学
热带医学
泌尿学和肾脏学
病毒学
老年医学
健康政策和服务
心理学,临床
abstract:BACKGROUND:Enterococcus faecium is a commensal of the gastrointestinal tract of animals and humans but also a causative agent of hospital-acquired infections. Resistance against glycopeptides and to vancomycin has motivated the inclusion of E. faecium in the WHO global priority list. Vancomycin resistance can be confer...
journal_title:Genome medicine
pub_type: 杂志文章
doi:10.1186/s13073-020-00825-3
更新日期:2021-01-20 00:00:00
abstract:BACKGROUND:Clinical laboratory (lab) tests are used in clinical practice to diagnose, treat, and monitor disease conditions. Test results are stored in electronic health records (EHRs), and a growing number of EHRs are linked to patient DNA, offering unprecedented opportunities to query relationships between genetic ri...
journal_title:Genome medicine
pub_type: 杂志文章
doi:10.1186/s13073-020-00820-8
更新日期:2021-01-13 00:00:00
abstract::During COVID-19, diagnostic serological tools and vaccines have been developed. To inform control activities in a post-vaccine surveillance setting, we have developed an online "immuno-analytics" resource that combines epitope, sequence, protein and SARS-CoV-2 mutation analysis. SARS-CoV-2 spike and nucleocapsid prote...
journal_title:Genome medicine
pub_type: 杂志文章
doi:10.1186/s13073-020-00822-6
更新日期:2021-01-07 00:00:00
abstract:BACKGROUND:The apolipoprotein E (APOE) ε4 allele is the strongest genetic risk factor for late onset Alzheimer's disease, whilst the ε2 allele confers protection. Previous studies report differential DNA methylation of APOE between ε4 and ε2 carriers, but associations with epigenome-wide methylation have not previously...
journal_title:Genome medicine
pub_type: 杂志文章
doi:10.1186/s13073-020-00808-4
更新日期:2021-01-04 00:00:00
abstract:BACKGROUND:Antibiotic-resistant Klebsiella pneumoniae are a major cause of hospital- and community-acquired infections, including sepsis, liver abscess, and pneumonia, driven mainly by the emergence of successful high-risk clonal lineages. The K. pneumoniae sequence type (ST) 307 lineage has appeared in several differe...
journal_title:Genome medicine
pub_type: 杂志文章
doi:10.1186/s13073-020-00814-6
更新日期:2020-12-09 00:00:00
abstract:BACKGROUND:Comprehensive molecular profiling has revealed somatic variations in cancer at genomic, epigenomic, transcriptomic, and proteomic levels. The accumulating data has shown clearly that molecular phenotypes of cancer are complex and influenced by a multitude of factors. Conventional unsupervised clustering appl...
journal_title:Genome medicine
pub_type: 杂志文章
doi:10.1186/s13073-020-00804-8
更新日期:2020-12-03 00:00:00
abstract:BACKGROUND:One of the major challenges in obesity treatment is to explain the high variability in the individual's response to specific dietary and physical activity interventions. With this study, we tested the hypothesis that specific DNA methylation changes reflect individual responsiveness to lifestyle intervention...
journal_title:Genome medicine
pub_type: 杂志文章
doi:10.1186/s13073-020-00794-7
更新日期:2020-11-16 00:00:00
abstract:BACKGROUND:Wnt signaling is an evolutionarily conserved developmental pathway that is frequently hyperactivated in cancer. While multiple protein-coding genes regulated by Wnt signaling are known, the functional lncRNAs regulated by Wnt signaling have not been systematically characterized. METHODS:We comprehensively m...
journal_title:Genome medicine
pub_type: 杂志文章
doi:10.1186/s13073-020-00788-5
更新日期:2020-10-22 00:00:00
abstract:BACKGROUND:Autism spectrum disorder (ASD) is a neurodevelopmental disorder with complex heritability and higher prevalence in males. The neonatal epigenome has the potential to reflect past interactions between genetic and environmental factors during early development and influence future health outcomes. METHODS:We ...
journal_title:Genome medicine
pub_type: 杂志文章
doi:10.1186/s13073-020-00785-8
更新日期:2020-10-14 00:00:00
abstract:BACKGROUND:Systemic sclerosis (SSc) is a genetically complex autoimmune disease mediated by the interplay between genetic and epigenetic factors in a multitude of immune cells, with CD4+ T lymphocytes as one of the principle drivers of pathogenesis. METHODS:DNA samples exacted from CD4+ T cells of 48 SSc patients and ...
journal_title:Genome medicine
pub_type: 杂志文章
doi:10.1186/s13073-020-00779-6
更新日期:2020-09-25 00:00:00
abstract:BACKGROUND:For circadian medicine to influence health, such as when to take a drug or undergo a procedure, a biomarker of molecular clock phase is required--one that is easily measured and generalizable across a broad population. It is not clear that any circadian biomarker yet satisfies these criteria. METHODS:We ana...
journal_title:Genome medicine
pub_type: 杂志文章
doi:10.1186/s13073-020-00768-9
更新日期:2020-08-21 00:00:00
abstract::Fecal microbiota transplantation (FMT) has demonstrated efficacy in treating inflammatory bowel diseases and irritable bowel syndrome in an increasing number of randomized controlled trials. Recently published data gives striking insights into the factors associated with FMT success paving the road for the use of prec...
journal_title:Genome medicine
pub_type: 杂志文章
doi:10.1186/s13073-020-00757-y
更新日期:2020-06-30 00:00:00
abstract:BACKGROUND:DNA methylation changes that accrue in the stem cell pool of an adult tissue in line with the cumulative number of cell divisions may contribute to the observed variation in cancer risk among tissues and individuals. Thus, the construction of epigenetic "mitotic" clocks that can measure the lifetime number o...
journal_title:Genome medicine
pub_type: 杂志文章
doi:10.1186/s13073-020-00752-3
更新日期:2020-06-24 00:00:00
abstract:BACKGROUND:Studies of cancer mutations have typically focused on identifying cancer driving mutations that confer growth advantage to cancer cells. However, cancer genomes accumulate a large number of passenger somatic mutations resulting from various endogenous and exogenous causes, including normal DNA damage and rep...
journal_title:Genome medicine
pub_type: 杂志文章
doi:10.1186/s13073-020-00745-2
更新日期:2020-05-29 00:00:00
abstract::Genome-wide association studies have shown unequivocally that common complex disorders have a polygenic genetic architecture and have enabled researchers to identify genetic variants associated with diseases. These variants can be combined into a polygenic risk score that captures part of an individual's susceptibilit...
journal_title:Genome medicine
pub_type: 杂志文章,评审
doi:10.1186/s13073-020-00742-5
更新日期:2020-05-18 00:00:00
abstract:BACKGROUND:Merkel cell carcinoma (MCC) is a highly aggressive neuroendocrine carcinoma of the skin caused by either the integration of Merkel cell polyomavirus (MCPyV) and expression of viral T antigens or by ultraviolet-induced damage to the tumor genome from excessive sunlight exposure. An increasing number of deep s...
journal_title:Genome medicine
pub_type: 杂志文章
doi:10.1186/s13073-020-00727-4
更新日期:2020-03-18 00:00:00
abstract:BACKGROUND:A comprehensive understanding of the pre-existing genetic variation in genes associated with antibiotic resistance in the Mycobacterium tuberculosis complex (MTBC) is needed to accurately interpret whole-genome sequencing data for genotypic drug susceptibility testing (DST). METHODS:We investigated mutation...
journal_title:Genome medicine
pub_type: 杂志文章
doi:10.1186/s13073-020-00726-5
更新日期:2020-03-06 00:00:00
abstract:BACKGROUND:While clinical factors such as age, grade, stage, and histological subtype provide physicians with information about patient prognosis, genomic data can further improve these predictions. Previous studies have shown that germline variants in known cancer driver genes are predictive of patient outcome, but no...
journal_title:Genome medicine
pub_type: 杂志文章
doi:10.1186/s13073-020-0718-7
更新日期:2020-02-17 00:00:00
abstract:BACKGROUND:Advanced age is associated with cognitive and physical decline and is a major risk factor for a multitude of disorders. There is also a gap in life expectancy between males and females. DNA methylation differences have been shown to be associated with both age and sex. Here, we investigate age-by-sex differe...
journal_title:Genome medicine
pub_type: 杂志文章
doi:10.1186/s13073-019-0693-z
更新日期:2019-12-31 00:00:00
abstract:BACKGROUND:Myelodysplastic syndromes (MDS) and acute myeloid leukaemia (AML) are characterised by abnormal epigenetic repression and differentiation of bone marrow haematopoietic stem cells (HSCs). Drugs that reverse epigenetic repression, such as 5-azacytidine (5-AZA), induce haematological improvement in half of trea...
journal_title:Genome medicine
pub_type: 杂志文章
doi:10.1186/s13073-019-0707-x
更新日期:2019-12-23 00:00:00
abstract:BACKGROUND:Precision oncology involves analysis of individual cancer samples to understand the genes and pathways involved in the development and progression of a cancer. To improve patient care, knowledge of diagnostic, prognostic, predisposing, and drug response markers is essential. Several knowledgebases have been ...
journal_title:Genome medicine
pub_type: 杂志文章,meta分析
doi:10.1186/s13073-019-0686-y
更新日期:2019-12-03 00:00:00
abstract::Here, we present the Northeast Asian Reference Database (NARD), including whole-genome sequencing data of 1779 individuals from Korea, Mongolia, Japan, China, and Hong Kong. NARD provides the genetic diversity of Korean (n = 850) and Mongolian (n = 384) ancestries that were not present in the 1000 Genomes Project Phas...
journal_title:Genome medicine
pub_type: 杂志文章
doi:10.1186/s13073-019-0677-z
更新日期:2019-10-22 00:00:00
abstract::Neoantigens are newly formed peptides created from somatic mutations that are capable of inducing tumor-specific T cell recognition. Recently, researchers and clinicians have leveraged next generation sequencing technologies to identify neoantigens and to create personalized immunotherapies for cancer treatment. To cr...
journal_title:Genome medicine
pub_type: 杂志文章,评审
doi:10.1186/s13073-019-0666-2
更新日期:2019-08-28 00:00:00
abstract:BACKGROUND:Mycobacterium tuberculosis resistance to anti-tuberculosis drugs is a major threat to global public health. Whole genome sequencing (WGS) is rapidly gaining traction as a diagnostic tool for clinical tuberculosis settings. To support this informatically, previous work led to the development of the widely use...
journal_title:Genome medicine
pub_type: 杂志文章
doi:10.1186/s13073-019-0650-x
更新日期:2019-06-24 00:00:00
abstract::CRISPR/Cas9 has revolutionized cancer mouse models. Although loss-of-function genetics by CRISPR/Cas9 is well-established, generating gain-of-function alleles in somatic cancer models is still challenging because of the low efficiency of gene knock-in. Here we developed CRISPR-based Somatic Oncogene kNock-In for Cance...
journal_title:Genome medicine
pub_type: 杂志文章
doi:10.1186/s13073-019-0627-9
更新日期:2019-04-16 00:00:00
abstract:BACKGROUND:Based on promising phase II data, the histone deacetylase inhibitor entinostat is in phase III trials for patients with metastatic estrogen receptor-positive breast cancer. Predictors of sensitivity and resistance, however, remain unknown. METHODS:A total of eight cell lines and nine mouse models of breast ...
journal_title:Genome medicine
pub_type: 杂志文章
doi:10.1186/s13073-018-0597-3
更新日期:2018-11-30 00:00:00
abstract:BACKGROUND:Chemotherapeutic agents such as anthracyclines and taxanes are commonly used in the neoadjuvant setting. Bevacizumab is an antibody which binds to vascular endothelial growth factor A (VEGFA) and inhibits its receptor interaction, thus obstructing the formation of new blood vessels. METHODS:A phase II rando...
journal_title:Genome medicine
pub_type: 杂志文章,多中心研究,随机对照试验
doi:10.1186/s13073-018-0601-y
更新日期:2018-11-29 00:00:00
abstract:BACKGROUND:Abnormal pre-mRNA splicing regulation is common in cancer, but the effects of chemotherapy on this process remain unclear. METHODS:To evaluate the effect of chemotherapy on slicing regulation, we performed meta-analyses of previously published transcriptomic, proteomic, phosphoproteomic, and secretome datas...
journal_title:Genome medicine
pub_type: 杂志文章
doi:10.1186/s13073-018-0557-y
更新日期:2018-06-27 00:00:00
abstract:BACKGROUND:Hepatocellular carcinoma (HCC) is the one of the most common cancers and lethal diseases in the world. DNA methylation alteration is frequently observed in HCC and may play important roles in carcinogenesis and diagnosis. METHODS:Using the TCGA HCC dataset, we classified HCC patients into different methylat...
journal_title:Genome medicine
pub_type: 杂志文章
doi:10.1186/s13073-018-0548-z
更新日期:2018-05-30 00:00:00
abstract::We describe a method that enables the multiplex screening of a pool of many different donor cell lines. Our method accurately predicts each donor proportion from the pool without requiring the use of unique DNA barcodes as markers of donor identity. Instead, we take advantage of common single nucleotide polymorphisms,...
journal_title:Genome medicine
pub_type: 杂志文章
doi:10.1186/s13073-018-0541-6
更新日期:2018-04-19 00:00:00
abstract:BACKGROUND:Despite the increasing recognition that microbial communities within the human body are linked to health, we have an incomplete understanding of the environmental and molecular interactions that shape the composition of these communities. Although host genetic factors play a role in these interactions, these...
journal_title:Genome medicine
pub_type: 杂志文章
doi:10.1186/s13073-018-0515-8
更新日期:2018-01-29 00:00:00
abstract:BACKGROUND:Establishing the cancer type and site of origin is important in determining the most appropriate course of treatment for cancer patients. Patients with cancer of unknown primary, where the site of origin cannot be established from an examination of the metastatic cancer cells, typically have poor survival. H...
journal_title:Genome medicine
pub_type: 杂志文章
doi:10.1186/s13073-017-0493-2
更新日期:2017-11-28 00:00:00
abstract:BACKGROUND:Intertumoral heterogeneity represents a significant hurdle to identifying optimized targeted therapies in gastric cancer (GC). To realize precision medicine for GC patients, an actionable gene alteration-based molecular classification that directly associates GCs with targeted therapies is needed. METHODS:A...
journal_title:Genome medicine
pub_type: 杂志文章
doi:10.1186/s13073-017-0484-3
更新日期:2017-10-31 00:00:00
abstract::National and international public-private partnerships, consortia, and government initiatives are underway to collect and share genomic, personal, and healthcare data on a massive scale. Ideally, these efforts will contribute to the creation of a medical information commons (MIC), a comprehensive data resource that is...
journal_title:Genome medicine
pub_type: 杂志文章
doi:10.1186/s13073-017-0476-3
更新日期:2017-09-22 00:00:00
abstract::Microsatellite expansion, such as trinucleotide repeat expansion (TRE), is known to cause a number of genetic diseases. Sanger sequencing and next-generation short-read sequencing are unable to interrogate TRE reliably. We developed a novel algorithm called RepeatHMM to estimate repeat counts from long-read sequencing...
journal_title:Genome medicine
pub_type: 杂志文章
doi:10.1186/s13073-017-0456-7
更新日期:2017-07-18 00:00:00
abstract:BACKGROUND:Profiles of DNA methylation of many tissues relevant in human disease have been obtained from microarrays and are publicly available. These can be used to generate maps of chromatin compartmentalization, demarcating open and closed chromatin across the genome. Additionally, large sets of genome-wide transcri...
journal_title:Genome medicine
pub_type: 杂志文章
doi:10.1186/s13073-017-0443-z
更新日期:2017-06-07 00:00:00
abstract::Advances in mass spectrometry have allowed the high-throughput quantitative identification of human leukocyte antigen (HLA) class I ligands, and recent studies have reported on the breadth and diversity of the HLA class I immunopeptidome. These findings have far-reaching implications for immunosurveillance by T cells ...
journal_title:Genome medicine
pub_type: 社论,评审
doi:10.1186/s13073-017-0439-8
更新日期:2017-05-24 00:00:00
abstract:BACKGROUND:Imiquimod (IMQ) produces a cutaneous phenotype in mice frequently studied as an acute model of human psoriasis. Whether this phenotype depends on strain or sex has never been systematically investigated on a large scale. Such effects, however, could lead to conflicts among studies, while further impacting st...
journal_title:Genome medicine
pub_type: 杂志文章
doi:10.1186/s13073-017-0415-3
更新日期:2017-03-09 00:00:00
abstract::Rett syndrome is a profound neurological disorder caused by mutations in the MECP2 gene, but preclinical research has indicated that it is potentially treatable. Progress towards this goal depends on the development of increasingly relevant model systems and on our improving knowledge of MeCP2 function in the brain. ...
journal_title:Genome medicine
pub_type: 信件,评审
doi:10.1186/s13073-017-0411-7
更新日期:2017-02-17 00:00:00
abstract:BACKGROUND:Retinoid therapy is widely employed in clinical oncology to differentiate malignant cells into their more benign counterparts. However, certain high-risk cohorts, such as patients with MYCN-amplified neuroblastoma, are innately resistant to retinoid therapy. Therefore, we employed a precision medicine approa...
journal_title:Genome medicine
pub_type: 杂志文章
doi:10.1186/s13073-017-0407-3
更新日期:2017-02-10 00:00:00