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:One of the tasks in the 2017 iDASH secure genome analysis competition was to enable training of logistic regression models over encrypted genomic data. More precisely, given a list of approximately 1500 patient records, each with 18 binary features containing information on specific mutations, the idea was f...
journal_title:BMC medical genomics
pub_type: 杂志文章
doi:10.1186/s12920-018-0397-z
更新日期:2018-10-11 00:00:00
abstract:BACKGROUND:Bladder cancer has numerous genomic features that are potentially actionable by targeted agents. Nevertheless, both pre-clinical and clinical research using molecular targeted agents have been very limited in bladder cancer. RESULTS:We created the Genomics of Drug Sensitivity in Bladder Cancer (GDBC) databa...
journal_title:BMC medical genomics
pub_type: 杂志文章
doi:10.1186/s12920-018-0406-2
更新日期:2018-10-03 00:00:00
abstract:BACKGROUND:Deafness is a highly heterogenous disorder with over 100 genes known to underlie human non-syndromic hearing impairment. However, many more remain undiscovered, particularly those involved in the most common form of deafness: adult-onset progressive hearing loss. Despite several genome-wide association studi...
journal_title:BMC medical genomics
pub_type: 杂志文章
doi:10.1186/s12920-018-0395-1
更新日期:2018-09-04 00:00:00
abstract:BACKGROUND:Balanced reciprocal chromosomal translocations (RCTs) are the ones of the most common structural aberrations in the population, with an incidence of 1:625. RCT carriers usually do not demonstrate changes in phenotype, except when the translocation results in gene interruption. However, these people are at ri...
journal_title:BMC medical genomics
pub_type: 杂志文章
doi:10.1186/s12920-018-0384-4
更新日期:2018-08-20 00:00:00
abstract:BACKGROUND:The Cancer Genome Atlas (TCGA) is an important data resource for cancer biologists and oncologists. However, a lack of bioinformatics expertise often hinders experimental cancer biologists and oncologists from exploring the TCGA resource. Although a number of tools have been developed for facilitating cancer...
journal_title:BMC medical genomics
pub_type: 杂志文章
doi:10.1186/s12920-018-0381-7
更新日期:2018-08-08 00:00:00
abstract:BACKGROUND:One of the major goals of genomic medicine is the identification of causal genomic variants in a patient and their relation to the observed clinical phenotypes. Prioritizing the genomic variants by considering only the genotype information usually identifies a few hundred potential variants. Narrowing it dow...
journal_title:BMC medical genomics
pub_type: 杂志文章
doi:10.1186/s12920-018-0372-8
更新日期:2018-07-06 00:00:00
abstract:BACKGROUND:Childhood asthma is a syndrome composed of heterogeneous phenotypes; furthermore, intrinsic biologic variation among racial/ethnic populations suggests possible genetic ancestry variation in childhood asthma. The objective of the study is to identify clinically homogeneous asthma subphenotypes in a diverse s...
journal_title:BMC medical genomics
pub_type: 杂志文章
doi:10.1186/s12920-018-0367-5
更新日期:2018-05-31 00:00:00
abstract:BACKGROUND:Birt-Hogg-Dubé syndrome (BHD) is an autosomal dominant disorder caused by germline mutations in the folliculin gene (FLCN). Nearly 150 pathogenic mutations have been identified in FLCN. The most frequent pattern is a frameshift mutation within a coding exon. In addition, splice-site mutations have been repor...
journal_title:BMC medical genomics
pub_type: 杂志文章
doi:10.1186/s12920-018-0359-5
更新日期:2018-05-02 00:00:00
abstract:BACKGROUND:A Mendelian transmission produces phenotypic and genetic relatedness between family members, giving family-based analytical methods an important role in genetic epidemiological studies-from heritability estimations to genetic association analyses. With the advance in genotyping technologies, whole-genome seq...
journal_title:BMC medical genomics
pub_type: 杂志文章
doi:10.1186/s12920-018-0345-y
更新日期:2018-04-20 00:00:00
abstract:BACKGROUND:Meiotic recombination happens during the process of meiosis when chromosomes inherited from two parents exchange genetic materials to generate chromosomes in the gamete cells. The recombination events tend to occur in narrow genomic regions called recombination hotspots. Its dysregulation could lead to serio...
journal_title:BMC medical genomics
pub_type: 杂志文章
doi:10.1186/s12920-018-0351-0
更新日期:2018-04-20 00:00:00
abstract:BACKGROUND:Primary microcephaly represents an example of clinically and genetically heterogeneous condition. Here we describe a case of primary microcephaly from the Karachay-Cherkess Republic, which was initially diagnosed with Seckel syndrome. CASE PRESENTATION:Clinical exome sequencing of the proband revealed a nov...
journal_title:BMC medical genomics
pub_type: 杂志文章
doi:10.1186/s12920-018-0326-1
更新日期:2018-02-13 00:00:00
abstract:BACKGROUND:Recent advances in omics technologies have raised great opportunities to study large-scale regulatory networks inside the cell. In addition, single-cell experiments have measured the gene and protein activities in a large number of cells under the same experimental conditions. However, a significant challeng...
journal_title:BMC medical genomics
pub_type: 杂志文章
doi:10.1186/s12920-017-0312-z
更新日期:2017-12-28 00:00:00
abstract:BACKGROUND:Differential gene expression is important to understand the biological differences between healthy and diseased states. Two common sources of differential gene expression data are microarray studies and the biomedical literature. METHODS:With the aid of text mining and gene expression analysis we have exami...
journal_title:BMC medical genomics
pub_type: 杂志文章
doi:10.1186/s12920-017-0293-y
更新日期:2017-10-11 00:00:00
abstract:BACKGROUND:With 15,949 markers, the low-density Infinium QC Array-24 BeadChip enables linkage analysis, HLA haplotyping, fingerprinting, ethnicity determination, mitochondrial genome variations, blood groups and pharmacogenomics. It represents an attractive independent QC option for NGS-based diagnostic laboratories, a...
journal_title:BMC medical genomics
pub_type: 杂志文章
doi:10.1186/s12920-017-0297-7
更新日期:2017-10-06 00:00:00
abstract:BACKGROUND:Genomic data is increasingly collected by a wide array of organizations. As such, there is a growing demand to make summary information about such collections available more widely. However, over the past decade, a series of investigations have shown that attacks, rooted in statistical inference methods, can...
journal_title:BMC medical genomics
pub_type: 杂志文章
doi:10.1186/s12920-017-0282-1
更新日期:2017-07-26 00:00:00
abstract:BACKGROUND:Rapid advances in scientific research have led to an increase in public awareness of genetic testing and pharmacogenetics. Direct-to-consumer (DTC) genetic testing companies, such as 23andMe, allow consumers to access their genetic information directly through an online service without the involvement of hea...
journal_title:BMC medical genomics
pub_type: 杂志文章
doi:10.1186/s12920-017-0283-0
更新日期:2017-06-19 00:00:00
abstract:BACKGROUND:Epithelial to mesenchymal transition, and mimicking processes, contribute to cancer invasion and metastasis, and are known to be responsible for resistance to various therapeutic agents in many cancers. While a number of studies have proposed molecular signatures that characterize the spectrum of such transi...
journal_title:BMC medical genomics
pub_type: 杂志文章
doi:10.1186/s12920-017-0252-7
更新日期:2017-03-09 00:00:00
abstract:BACKGROUND:The rapid adoption of next-generation sequencing provides an efficient system for detecting somatic alterations in neoplasms. The detection of such alterations requires a matched non-neoplastic sample for adequate filtering of non-somatic events such as germline polymorphisms. Non-neoplastic tissue adjacent ...
journal_title:BMC medical genomics
pub_type: 杂志文章
doi:10.1186/s12920-016-0226-1
更新日期:2016-10-19 00:00:00
abstract:BACKGROUND:DNA methylation levels will be important for detection of epigenetic effects. However, there are few reports showing sex-related differences in the sensitivity to DNA methylation. To evaluate their sex-related individual differences in the sensitivity to methylation rigorously, we performed a systematic anal...
journal_title:BMC medical genomics
pub_type: 杂志文章
doi:10.1186/s12920-016-0217-2
更新日期:2016-08-26 00:00:00
abstract:BACKGROUND:Accurate discovery of molecular biomarkers that are prognostic of a clinical outcome is an important yet challenging task, partly due to the combination of the typically weak genomic signal for a clinical outcome and the frequently strong noise due to microarray handling effects. Effective strategies to reso...
journal_title:BMC medical genomics
pub_type: 杂志文章
doi:10.1186/s12920-016-0187-4
更新日期:2016-06-10 00:00:00
abstract:BACKGROUND:Glaucoma is the largest cause of irreversible blindness affecting more than 60 million people globally. The disease is defined as a gradual loss of peripheral vision due to death of Retinal Ganglion Cells (RGC). The RGC death is largely influenced by the rate of aqueous humor production by ciliary processes ...
journal_title:BMC medical genomics
pub_type: 杂志文章
doi:10.1186/s12920-016-0177-6
更新日期:2016-03-22 00:00:00
abstract::In this issue of BMC Medical Genomics Griffin et al. present a user-friendly and freely accessible HIV-associated neurocognitive disorder (HAND) genomic database that compiles viral (HIV-1) genetic sequences and other relevant clinical and treatment data. We discuss the benefits and caveats of public data sharing in N...
journal_title:BMC medical genomics
pub_type: 杂志文章
doi:10.1186/s12920-015-0150-9
更新日期:2015-11-11 00:00:00
abstract:BACKGROUND:DNA methylation is thought to be extensively involved in the pathogenesis of many diseases, including major psychosis. However, most studies focus on DNA methylation alteration at promoters of protein-coding genes, despite the poor correlation between DNA methylation and gene expression. METHODS:We analyzed...
journal_title:BMC medical genomics
pub_type: 杂志文章
doi:10.1186/s12920-015-0139-4
更新日期:2015-10-14 00:00:00
abstract:BACKGROUND:Loss of heterozygosity (LOH) is a common genetic event in cancer development, and is known to be involved in the somatic loss of wild-type alleles in many inherited cancer syndromes. The wider involvement of LOH in cancer is assumed to relate to unmasking a somatically mutated tumour suppressor gene through ...
journal_title:BMC medical genomics
pub_type: 杂志文章
doi:10.1186/s12920-015-0123-z
更新日期:2015-08-01 00:00:00
abstract::Sickle cell disease and β thalassemia are common severe diseases with little effective pathophysiologically-based treatment. Their phenotypic heterogeneity prompted genomic approaches to identify modifiers that ultimately might be exploited therapeutically. Fetal hemoglobin (HbF) is the major modulator of the phenotyp...
journal_title:BMC medical genomics
pub_type: 杂志文章,评审
doi:10.1186/s12920-015-0120-2
更新日期:2015-07-29 00:00:00
abstract:BACKGROUND:The growing advances in DNA sequencing tools have made analyzing the human genome cheaper and faster. While such analyses are intended to identify complex variants, related to disease susceptibility and efficacy of drug responses, they have blurred the definitions of mutation and polymorphism. DISCUSSION:In...
journal_title:BMC medical genomics
pub_type: 杂志文章
doi:10.1186/s12920-015-0115-z
更新日期:2015-07-15 00:00:00
abstract:BACKGROUND:Gulf War Illness (GWI) is a complex multi-symptom disorder that affects up to one in three veterans of this 1991 conflict and for which no effective treatment has been found. Discovering novel treatment strategies for such a complex chronic illness is extremely expensive, carries a high probability of failur...
journal_title:BMC medical genomics
pub_type: 杂志文章
doi:10.1186/s12920-015-0111-3
更新日期:2015-07-09 00:00:00
abstract:BACKGROUND:Small non-coding regulatory RNAs control cellular functions at the transcriptional and post-transcriptional levels. Oral squamous cell carcinoma is among the leading cancers in the world and the presence of cervical lymph node metastases is currently its strongest prognostic factor. In this work we aimed at ...
journal_title:BMC medical genomics
pub_type: 杂志文章
doi:10.1186/s12920-015-0102-4
更新日期:2015-06-24 00:00:00
abstract:BACKGROUND:Breast cancer comprises multiple tumor entities associated with different biological features and clinical behaviors, making individualized medicine a powerful tool to bring the right drug to the right patient. Next generation sequencing of RNA (RNA-Seq) is a suitable method to detect targets for individuali...
journal_title:BMC medical genomics
pub_type: 杂志文章
doi:10.1186/s12920-015-0095-z
更新日期:2015-05-21 00:00:00
abstract:BACKGROUND:Despite their singular origin, monozygotic twin pairs often display discordance for complex disorders including schizophrenia. It is a common (1%) and often familial disease with a discordance rate of ~50% in monozygotic twins. This high discordance is often explained by the role of yet unknown environmental...
journal_title:BMC medical genomics
pub_type: 杂志文章
doi:10.1186/s12920-015-0093-1
更新日期:2015-05-06 00:00:00
abstract:BACKGROUND:The gene expression profile of cytologically-normal bronchial airway epithelial cells has previously been shown to be altered in patients with lung cancer. Although bronchoscopy is often used for the diagnosis of lung cancer, its sensitivity is imperfect, especially for small and peripheral suspicious lesion...
journal_title:BMC medical genomics
pub_type: 杂志文章,多中心研究
doi:10.1186/s12920-015-0091-3
更新日期:2015-05-06 00:00:00
abstract:BACKGROUND:Ciguatoxins (CTXs) are polyether marine neurotoxins found in multiple reef-fish species and are potent activators of voltage-gated sodium channels. It is estimated that up to 500,000 people annually experience acute ciguatera poisoning from consuming toxic fish and a small percentage of these victims will de...
journal_title:BMC medical genomics
pub_type: 杂志文章
doi:10.1186/s12920-015-0089-x
更新日期:2015-04-02 00:00:00
abstract:BACKGROUND:A clinical overlap exists between mosaic Neurofibromatosis Type 2 and sporadic Schwannomatosis conditions. In these cases a molecular analysis of tumors is recommended for a proper genetic diagnostics. This analysis is challenged by the fact that schwannomas in both conditions bear a somatic double inactivat...
journal_title:BMC medical genomics
pub_type: 杂志文章
doi:10.1186/s12920-015-0076-2
更新日期:2015-01-24 00:00:00
abstract:BACKGROUND:In recent years, high-throughput protein interaction identification methods have generated a large amount of data. When combined with the results from other in vivo and in vitro experiments, a complex set of relationships between biological molecules emerges. The growing popularity of network analysis and da...
journal_title:BMC medical genomics
pub_type: 杂志文章
doi:10.1186/1755-8794-8-S2-S9
更新日期:2015-01-01 00:00:00
abstract:BACKGROUND:Integrating multiple data sources is indispensable in improving disease gene identification. It is not only due to the fact that disease genes associated with similar genetic diseases tend to lie close with each other in various biological networks, but also due to the fact that gene-disease associations are...
journal_title:BMC medical genomics
pub_type: 杂志文章
doi:10.1186/1755-8794-8-S3-S2
更新日期:2015-01-01 00:00:00
abstract:BACKGROUND:Cytokine-induced killer (CIK) cells are an emerging approach of cancer treatment. Our previous study have shown that CIK cells stimulated with combination of IL-2 and IL-15 displayed improved proliferation capacity and tumor cytotoxicity. However, the mechanisms of CIK cell proliferation and acquisition of c...
journal_title:BMC medical genomics
pub_type: 杂志文章
doi:10.1186/1755-8794-7-49
更新日期:2014-08-09 00:00:00
abstract:BACKGROUND:The threat of a terrorist-precipitated nuclear event places humans at danger for radiological exposures. Isotopes which emit alpha (α)-particle radiation pose the highest risk. Currently, gene expression signatures are being developed for radiation biodosimetry and triage with respect to ionizing photon radi...
journal_title:BMC medical genomics
pub_type: 杂志文章
doi:10.1186/1755-8794-7-43
更新日期:2014-07-12 00:00:00
abstract:BACKGROUND:Chiari Type I Malformation (CMI) is characterized by herniation of the cerebellar tonsils through the foramen magnum at the base of the skull, resulting in significant neurologic morbidity. As CMI patients display a high degree of clinical variability and multiple mechanisms have been proposed for tonsillar ...
journal_title:BMC medical genomics
pub_type: 杂志文章
doi:10.1186/1755-8794-7-39
更新日期:2014-06-25 00:00:00
abstract:BACKGROUND:Cardiac pathological hypertrophy is associated with a significantly increased risk of coronary heart disease and has been observed in diabetic patients treated with rosiglitazone whereas most published studies do not suggest a similar increase in risk of cardiovascular events in pioglitazone-treated diabetic...
journal_title:BMC medical genomics
pub_type: 杂志文章
doi:10.1186/1755-8794-7-35
更新日期:2014-06-17 00:00:00
abstract:BACKGROUND:Expression quantitative trait loci (eQTL) are genomic regions regulating RNA transcript expression levels. Genome-wide Association Studies (GWAS) have identified many variants, often in non-coding regions, with unknown functions and eQTL provide a possible mechanism by which these variants may influence obse...
journal_title:BMC medical genomics
pub_type: 杂志文章
doi:10.1186/1755-8794-7-31
更新日期:2014-06-03 00:00:00