BMC Medical Genomics is an open access journal publishing original peer-reviewed research articles in all aspects of functional genomics, genome structure, genome-scale population genetics, epigenomics, proteomics, systems analysis, and pharmacogenomics in relation to human health and disease.
BMC Medical Genomics是一份开放获取期刊，发表与人类健康和疾病相关的功能基因组学、基因组结构、基因组规模群体遗传学、表观基因组学、蛋白质组学、系统分析和药物基因组学等各个方面的原创同行评审研究文章。
Alternative cleavage and polyadenylation of genes associated with protein turnover and mitochondrial function are deregulated in Parkinson’s, Alzheimer’s and ALS disease
来源期刊：BMC Medical GenomicsDOI：10.1186/s12920-019-0509-4
The added value of WES reanalysis in the field of genetic diagnosis: lessons learned from 200 exomes in the Lebanese population
来源期刊：BMC Medical GenomicsDOI：10.1186/s12920-019-0474-y
Clustering analysis of microRNA and mRNA expression data from TCGA using maximum edge-weighted matching algorithms
来源期刊：BMC Medical GenomicsDOI：10.1186/s12920-019-0562-z
New insights into DNA methylation signatures: SMARCA2 variants in Nicolaides-Baraitser syndrome
来源期刊：BMC Medical GenomicsDOI：10.1186/s12920-019-0555-y
Design and analysis of stably integrated reporters for inducible transgene expression in human T cells and CAR NK-cell lines
来源期刊：BMC Medical GenomicsDOI：10.1186/s12920-019-0489-4
Interrelation of chemerin and TNF-α with mtDNA copy number in adipose tissues and blood cells in obese patients with and without type 2 diabetes
来源期刊：BMC Medical GenomicsDOI：10.1186/s12920-019-0485-8
A comprehensive genome-wide profiling comparison between HBV and HCV infected hepatocellular carcinoma
来源期刊：BMC Medical GenomicsDOI：10.1186/s12920-019-0580-x
RNA-seq from archival FFPE breast cancer samples: molecular pathway fidelity and novel discovery
来源期刊：BMC Medical GenomicsDOI：10.1186/s12920-019-0643-z
DNA methylation screening after roux-en Y gastric bypass reveals the epigenetic signature stems from genes related to the surgery per se
来源期刊：BMC Medical GenomicsDOI：10.1186/s12920-019-0522-7
Evaluating single-subject study methods for personal transcriptomic interpretations to advance precision medicine
来源期刊：BMC Medical GenomicsDOI：10.1186/s12920-019-0513-8
Potential risks and solutions for sharing genome summary data from African populations
来源期刊：BMC Medical GenomicsDOI：10.1186/s12920-019-0604-6
Correction to: Predicting drug response of tumors from integrated genomic profiles by deep neural networks
来源期刊：BMC Medical GenomicsDOI：10.1186/s12920-019-0569-5
Integrative genomic and transcriptomic analysis of genetic markers in Dupuytren’s disease
来源期刊：BMC Medical GenomicsDOI：10.1186/s12920-019-0518-3
High-throughput RNA sequencing from paired lesional- and non-lesional skin reveals major alterations in the psoriasis circRNAome
来源期刊：BMC Medical GenomicsDOI：10.1186/s12920-019-0616-2
CoMutPlotter: a web tool for visual summary of mutations in cancer cohorts
来源期刊：BMC Medical GenomicsDOI：10.1186/s12920-019-0510-y
Novel secretome-to-transcriptome integrated or secreto-transcriptomic approach to reveal liquid biopsy biomarkers for predicting individualized prognosis of breast cancer patients
来源期刊：BMC Medical GenomicsDOI：10.1186/s12920-019-0530-7
A functional polymorphism in the promoter of miR-17-92 cluster is associated with decreased risk of ischemic stroke
来源期刊：BMC Medical GenomicsDOI：10.1186/s12920-019-0589-1
MEG3 promotes proliferation and inhibits apoptosis in osteoarthritis chondrocytes by miR-361-5p/FOXO1 axis
来源期刊：BMC Medical GenomicsDOI：10.1186/s12920-019-0649-6
A comparison of machine learning classifiers for dementia with Lewy bodies using miRNA expression data
来源期刊：BMC Medical GenomicsDOI：10.1186/s12920-019-0607-3
CDK1 and CCNB1 as potential diagnostic markers of rhabdomyosarcoma: validation following bioinformatics analysis
来源期刊：BMC Medical GenomicsDOI：10.1186/s12920-019-0645-x
Identification of single nucleotide variants using position-specific error estimation in deep sequencing data
来源期刊：BMC Medical GenomicsDOI：10.1186/s12920-019-0557-9
Finding prognostic gene pairs for cancer from patient-specific gene networks
来源期刊：BMC Medical GenomicsDOI：10.1186/s12920-019-0634-0
Transcriptomic and ChIP-sequence interrogation of EGFR signaling in HER2+ breast cancer cells reveals a dynamic chromatin landscape and S100 genes as targets
来源期刊：BMC Medical GenomicsDOI：10.1186/s12920-019-0477-8
The clinical benefit of array-based comparative genomic hybridization for detection of copy number variants in Czech children with intellectual disability and developmental delay
来源期刊：BMC Medical GenomicsDOI：10.1186/s12920-019-0559-7
Retroposed copies of RET gene: a somatically acquired event in medullary thyroid carcinoma
来源期刊：BMC Medical GenomicsDOI：10.1186/s12920-019-0552-1
Genome analysis and knowledge-driven variant interpretation with TGex
来源期刊：BMC Medical GenomicsDOI：10.1186/s12920-019-0647-8
Structural variation of centromeric endogenous retroviruses in human populations and their impact on cutaneous T-cell lymphoma, Sézary syndrome, and HIV infection
来源期刊：BMC Medical GenomicsDOI：10.1186/s12920-019-0505-8
Long contiguous stretches of homozygosity detected by chromosomal microarrays (CMA) in patients with neurodevelopmental disorders in the South of Brazil
来源期刊：BMC Medical GenomicsDOI：10.1186/s12920-019-0496-5
Disruption of chromatin organisation causes MEF2C gene overexpression in intellectual disability: a case report
来源期刊：BMC Medical GenomicsDOI：10.1186/s12920-019-0558-8
ClearF: a supervised feature scoring method to find biomarkers using class-wise embedding and reconstruction
来源期刊：BMC Medical GenomicsDOI：10.1186/s12920-019-0512-9
Topological integration of RPPA proteomic data with multi-omics data for survival prediction in breast cancer via pathway activity inference
来源期刊：BMC Medical GenomicsDOI：10.1186/s12920-019-0511-x
Improved cell composition deconvolution method of bulk gene expression profiles to quantify subsets of immune cells
来源期刊：BMC Medical GenomicsDOI：10.1186/s12920-019-0613-5
A novel genomic panel as an adjunctive diagnostic tool for the characterization and profiling of breast Fibroepithelial lesions
来源期刊：BMC Medical GenomicsDOI：10.1186/s12920-019-0588-2
Systematic characterization of germline variants from the DiscovEHR study endometrial carcinoma population
来源期刊：BMC Medical GenomicsDOI：10.1186/s12920-019-0504-9
Intrinsic and extrinsic epigenetic age acceleration are associated with hypertensive target organ damage in older African Americans
来源期刊：BMC Medical GenomicsDOI：10.1186/s12920-019-0585-5
Analysis of gene expression profiles and protein-protein interaction networks in multiple tissues of systemic sclerosis
来源期刊：BMC Medical GenomicsDOI：10.1186/s12920-019-0632-2
Identification of lung cancer gene markers through kernel maximum mean discrepancy and information entropy
来源期刊：BMC Medical GenomicsDOI：10.1186/s12920-019-0630-4
A deep neural network approach to predicting clinical outcomes of neuroblastoma patients
来源期刊：BMC Medical GenomicsDOI：10.1186/s12920-019-0628-y
Detection of large rearrangements in a hereditary pan-cancer panel using next-generation sequencing
来源期刊：BMC Medical GenomicsDOI：10.1186/s12920-019-0587-3
Comparison of somatic variant detection algorithms using Ion Torrent targeted deep sequencing data
来源期刊：BMC Medical GenomicsDOI：10.1186/s12920-019-0636-y
wtest: an integrated R package for genetic epistasis testing
来源期刊：BMC Medical GenomicsDOI：10.1186/s12920-019-0638-9
BasePhasing: a highly efficient approach for preimplantation genetic haplotyping in clinical application of balanced translocation carriers
来源期刊：BMC Medical GenomicsDOI：10.1186/s12920-019-0495-6
GTX.Digest.VCF: an online NGS data interpretation system based on intelligent gene ranking and large-scale text mining
来源期刊：BMC Medical GenomicsDOI：10.1186/s12920-019-0637-x
MySeq: privacy-protecting browser-based personal Genome analysis for genomics education and exploration
来源期刊：BMC Medical GenomicsDOI：10.1186/s12920-019-0615-3
Meta-Qtest: meta-analysis of quadratic test for rare variants
来源期刊：BMC Medical GenomicsDOI：10.1186/s12920-019-0516-5
Analysis of disease comorbidity patterns in a large-scale China population
来源期刊：BMC Medical GenomicsDOI：10.1186/s12920-019-0629-x
A female patient with retinoblastoma and severe intellectual disability carrying an X;13 balanced translocation without rearrangement in the RB1 gene: a case report
来源期刊：BMC Medical GenomicsDOI：10.1186/s12920-019-0640-2
Preimplantation genetic testing for a family with usher syndrome through targeted sequencing and haplotype analysis
来源期刊：BMC Medical GenomicsDOI：10.1186/s12920-019-0600-x
Integrative subspace clustering by common and specific decomposition for applications on cancer subtype identification
来源期刊：BMC Medical GenomicsDOI：10.1186/s12920-019-0633-1
Epigenetic landscapes suggest that genetic risk for intracranial aneurysm operates on the endothelium
来源期刊：BMC Medical GenomicsDOI：10.1186/s12920-019-0591-7
