BMC Medical Genomics

Papers
(The median citation count of BMC Medical Genomics is 2. The table below lists those papers that are above that threshold based on CrossRef citation counts [max. 250 papers]. The publications cover those that have been published in the past four years, i.e., from 2020-03-01 to 2024-03-01.)
ArticleCitations
Convolutional neural network models for cancer type prediction based on gene expression93
Genome-wide association meta-analysis for early age-related macular degeneration highlights novel loci and insights for advanced disease55
Detection of gene fusions using targeted next-generation sequencing: a comparative evaluation54
Deep learning-based cancer survival prognosis from RNA-seq data: approaches and evaluations48
A random forest based biomarker discovery and power analysis framework for diagnostics research42
Prediction of circRNA-disease associations based on inductive matrix completion41
Integration analysis of long non-coding RNA (lncRNA) role in tumorigenesis of colon adenocarcinoma41
A pan-cancer study of class-3 semaphorins as therapeutic targets in cancer38
Using Ethereum blockchain to store and query pharmacogenomics data via smart contracts37
Machine learning based refined differential gene expression analysis of pediatric sepsis32
Modifiable lifestyle factors and severe COVID-19 risk: a Mendelian randomisation study31
Islet-expressed circular RNAs are associated with type 2 diabetes status in human primary islets and in peripheral blood29
Performance of cell-free DNA sequencing-based non-invasive prenatal testing: experience on 36,456 singleton and multiple pregnancies28
Exosomal microRNAs are novel circulating biomarkers in cigarette, waterpipe smokers, E-cigarette users and dual smokers28
Study protocol: Whole genome sequencing Implementation in standard Diagnostics for Every cancer patient (WIDE)28
The landscape of GWAS validation; systematic review identifying 309 validated non-coding variants across 130 human diseases27
Design and user experience testing of a polygenic score report: a qualitative study of prospective users26
A pan-cancer study of selenoprotein genes as promising targets for cancer therapy25
Detecting copy number variation in next generation sequencing data from diagnostic gene panels24
Identification of potential therapeutic targets for atherosclerosis by analysing the gene signature related to different immune cells and immune regulators in atheromatous plaques24
Whole-exome sequencing in 168 Korean patients with inherited retinal degeneration24
Construction and analysis of a lncRNA-miRNA-mRNA network based on competitive endogenous RNA reveal functional lncRNAs in oral cancer23
Gene variants associated with acne vulgaris presentation and severity: a systematic review and meta-analysis22
Identifying the role of transient receptor potential channels (TRPs) in kidney renal clear cell carcinoma and their potential therapeutic significances using genomic and transcriptome analyses21
High performance logistic regression for privacy-preserving genome analysis21
Bioinformatic analysis reveals an exosomal miRNA-mRNA network in colorectal cancer21
Comprehensive analysis of angiogenesis-related genes and pathways in early diabetic retinopathy20
Integrated CNV-seq, karyotyping and SNP-array analyses for effective prenatal diagnosis of chromosomal mosaicism20
Transcriptome analysis reveals the link between lncRNA-mRNA co-expression network and tumor immune microenvironment and overall survival in head and neck squamous cell carcinoma20
iDASH secure genome analysis competition 2018: blockchain genomic data access logging, homomorphic encryption on GWAS, and DNA segment searching20
Identification of potential crucial genes in atrial fibrillation: a bioinformatic analysis19
Specific chromatin landscapes and transcription factors couple breast cancer subtype with metastatic relapse to lung or brain19
Expanding the application of non-invasive prenatal testing in the detection of foetal chromosomal copy number variations19
Next-generation sequencing analysis of endometrial screening liquid-based cytology specimens: a comparative study to tissue specimens19
TOP2A and CENPF are synergistic master regulators activated in cervical cancer19
Cancer gene expression profiles associated with clinical outcomes to chemotherapy treatments19
Identification of genes and miRNA associated with idiopathic recurrent pregnancy loss: an exploratory data mining study18
Analysis of exosomal circRNAs upon irradiation in pancreatic cancer cell repopulation18
Integrative analyses of biomarkers and pathways for heart failure18
Characterization of genetic and phenotypic heterogeneity of obstructive sleep apnea using electronic health records17
Somatic synonymous mutations in regulatory elements contribute to the genetic aetiology of melanoma17
Leveraging blockchain for immutable logging and querying across multiple sites17
Integrated analysis of lncRNA–miRNA–mRNA ceRNA network and the potential prognosis indicators in sarcomas17
SARS-COV-2 as potential microRNA sponge in COVID-19 patients17
Fusion transcript detection using spatial transcriptomics17
Achieving GWAS with homomorphic encryption17
Identification of seven novel ferroptosis-related long non-coding RNA signatures as a diagnostic biomarker for acute myeloid leukemia17
Expanded noninvasive prenatal testing for fetal aneuploidy and copy number variations and parental willingness for invasive diagnosis in a cohort of 18,516 cases17
In-silico performance, validation, and modeling of the Nanostring Banff Human Organ transplant gene panel using archival data from human kidney transplants17
SARS-CoV-2: tracing the origin, tracking the evolution17
Genetic association between CDKN2B/CDKN2B-AS1 gene polymorphisms with primary glaucoma in a North Indian cohort: an original study and an updated meta-analysis16
Genomic analysis of circular RNAs in heart16
A blood RNA transcriptome signature for COVID-1916
Detection of leukemia gene fusions by targeted RNA-sequencing in routine diagnostics16
Network-based drug sensitivity prediction16
Identification of monocyte-associated genes as predictive biomarkers of heart failure after acute myocardial infarction16
Transcription factor expression as a predictor of colon cancer prognosis: a machine learning practice16
Integrative analyses of gene expression profile reveal potential crucial roles of mitotic cell cycle and microtubule cytoskeleton in pulmonary artery hypertension15
Expression profile of circRNA in peripheral blood mononuclear cells of patients with rheumatoid arthritis15
Privacy-preserving approximate GWAS computation based on homomorphic encryption15
Long non-coding RNA profiling of pediatric Medulloblastoma15
Privacy-preserving semi-parallel logistic regression training with fully homomorphic encryption15
Breast and prostate cancers harbor common somatic copy number alterations that consistently differ by race and are associated with survival15
Transcriptome analysis of peripheral whole blood identifies crucial lncRNAs implicated in childhood asthma15
ProGeo-neo: a customized proteogenomic workflow for neoantigen prediction and selection14
Identification of contributing genes of Huntington’s disease by machine learning14
Untargeted metabolomic approach to study the serum metabolites in women with polycystic ovary syndrome14
Characterizing sensitivity and coverage of clinical WGS as a diagnostic test for genetic disorders14
Sensitivity to gene dosage and gene expression affects genes with copy number variants observed among neuropsychiatric diseases14
Considering the APOE locus in Alzheimer’s disease polygenic scores in the Health and Retirement Study: a longitudinal panel study14
MicroRNA related prognosis biomarkers from high throughput sequencing data of kidney renal clear cell carcinoma14
Whole genome sequencing in the diagnosis of primary ciliary dyskinesia13
A method for cryopreservation and single nucleus RNA-sequencing of normal adult human interventricular septum heart tissue reveals cellular diversity and function13
miRNAs expression signature potentially associated with lymphatic dissemination in locally advanced prostate cancer13
Genetically determined tobacco and alcohol use and risk of atrial fibrillation13
DNA methylation abnormalities of imprinted genes in congenital heart disease: a pilot study13
EARN: an ensemble machine learning algorithm to predict driver genes in metastatic breast cancer13
DIA proteomics analysis through serum profiles reveals the significant proteins as candidate biomarkers in women with PCOS13
Using blockchain to log genome dataset access: efficient storage and query13
Ancestry specific associations of a genetic risk score, dietary patterns and metabolic syndrome: a longitudinal ARIC study13
Error-corrected sequencing strategies enable comprehensive detection of leukemic mutations relevant for diagnosis and minimal residual disease monitoring13
Metastatic and recurrent adrenocortical cancer is not defined by its genomic landscape13
Improving lung cancer risk stratification leveraging whole transcriptome RNA sequencing and machine learning across multiple cohorts13
Integrative genomics analysis of various omics data and networks identify risk genes and variants vulnerable to childhood-onset asthma12
A de novo 2.2 Mb recurrent 17q23.1q23.2 deletion unmasks novel putative regulatory non-coding SNVs associated with lethal lung hypoplasia and pulmonary hypertension: a case report12
A novel defined risk signature based on pyroptosis-related genes can predict the prognosis of prostate cancer12
Comparative analysis of somatic variant calling on matched FF and FFPE WGS samples12
RNA sequencing of blood in coronary artery disease: involvement of regulatory T cell imbalance12
Molecular epidemiology of SARS-CoV-2 isolated from COVID-19 family clusters12
Robust biomarker discovery for hepatocellular carcinoma from high-throughput data by multiple feature selection methods12
Comprehensive analysis of miRNA–mRNA regulatory network and potential drugs in chronic chagasic cardiomyopathy across human and mouse12
Transcriptome analysis of HPV-induced warts and healthy skin in humans12
Efficient logging and querying for blockchain-based cross-site genomic dataset access audit12
Gene networks and transcriptional regulators associated with liver cancer development and progression12
Obstructive sleep apnea and atrial fibrillation: insights from a bidirectional Mendelian randomization study12
Semi-Parallel logistic regression for GWAS on encrypted data12
Novel susceptibility loci identified in a genome-wide association study of type 2 diabetes complications in population of Latvia11
Prevalence and clinical phenotype of the triplicated α-globin genes and its ethnic and geographical distribution in Guizhou of China11
Bioinformatic analysis revealing mitotic spindle assembly regulated NDC80 and MAD2L1 as prognostic biomarkers in non-small cell lung cancer development11
Comprehensive analysis of ferroptosis-related genes and prognosis of cutaneous melanoma11
MinION, a portable long-read sequencer, enables rapid vaginal microbiota analysis in a clinical setting11
Clinicopathological investigation of secretory carcinoma cases including a successful treatment outcome using entrectinib for high-grade transformation: a case report11
Role of a lipid metabolism-related lncRNA signature in risk stratification and immune microenvironment for colon cancer11
Identification of potential causal variants for premature ovarian failure by whole exome sequencing11
Analysis of potential genetic biomarkers using machine learning methods and immune infiltration regulatory mechanisms underlying atrial fibrillation11
Weighted correlation network bioinformatics uncovers a key molecular biosignature driving the left-sided heart failure11
An integrative, genomic, transcriptomic and network-assisted study to identify genes associated with human cleft lip with or without cleft palate11
Association of blood pressure with cognitive function at midlife: a Mendelian randomization study11
Whether, when, how, and how much? General public’s and cancer patients’ views about the disclosure of genomic secondary findings10
Genome-wide association study identifies new loci associated with risk of HBV infection and disease progression10
Extremes of age are associated with differences in the expression of selected pattern recognition receptor genes and ACE2, the receptor for SARS-CoV-2: implications for the epidemiology of COVID-19 di10
Profiling non-coding RNA levels with clinical classifiers in pediatric Crohn’s disease10
Identification of biomarkers and pathogenesis in severe asthma by coexpression network analysis10
CNKSR2-related neurodevelopmental and epilepsy disorder: a cohort of 13 new families and literature review indicating a predominance of loss of function pathogenic variants10
Involvement of immune system and Epithelial–Mesenchymal-Transition in increased invasiveness of clustered circulatory tumor cells in breast cancer10
Biomarker discovery in attention deficit hyperactivity disorder: RNA sequencing of whole blood in discordant twin and case-controlled cohorts10
Optimized homomorphic encryption solution for secure genome-wide association studies10
Potential role of genomic imprinted genes and brain developmental related genes in autism10
Disclosure of clinically actionable genetic variants to thoracic aortic dissection biobank participants10
CD44 is a prognostic biomarker and correlated with immune infiltrates in gastric cancer10
Mitochondrial GWAS and association of nuclear – mitochondrial epistasis with BMI in T1DM patients10
Relationship of cytochrome P450 gene polymorphisms with blood concentrations of hydroxychloroquine and its metabolites and adverse drug reactions10
Analysis of risk allele frequencies of single nucleotide polymorphisms related to open-angle glaucoma in different ethnic groups10
IL-17A polymorphism (rs2275913) and levels are associated with preeclampsia pathogenesis in Chinese patients10
Epigenetic loci for blood pressure are associated with hypertensive target organ damage in older African Americans from the genetic epidemiology network of Arteriopathy (GENOA) study10
Decentralized genomics audit logging via permissioned blockchain ledgering10
Genetic basis of cannabis use: a systematic review10
MIPP-Seq: ultra-sensitive rapid detection and validation of low-frequency mosaic mutations10
Evaluation of chromosomal abnormalities and copy number variations in fetuses with ultrasonic soft markers10
Validation of whole genome sequencing from dried blood spots9
Construction and investigation of a combined hypoxia and stemness index lncRNA-associated ceRNA regulatory network in lung adenocarcinoma9
Novel missense mutation of SASH1 in a Chinese family with dyschromatosis universalis hereditaria9
Genetic colocalization atlas points to common regulatory sites and genes for hematopoietic traits and hematopoietic contributions to disease phenotypes9
Competing endogenous RNA network analysis explores the key lncRNAs, miRNAs, and mRNAs in type 1 diabetes9
What is the right sequencing approach? Solo VS extended family analysis in consanguineous populations9
Functional genomics of AP-2α and AP-2γ in cancers: in silico study9
The landscape of alternative splicing in HIV-1 infected CD4 T-cells9
Identifying of 22q11.2 variations in Chinese patients with development delay9
Identification of key genes and functions of circulating tumor cells in multiple cancers through bioinformatic analysis9
The diagnostic yield of intellectual disability: combined whole genome low-coverage sequencing and medical exome sequencing9
Frequent POLE-driven hypermutation in ovarian endometrioid cancer revealed by mutational signatures in RNA sequencing9
Expression correlation attenuates within and between key signaling pathways in chronic kidney disease9
Mitochondrial tRNA methylation in Alzheimer’s disease and progressive supranuclear palsy9
Dense module searching for gene networks associated with multiple sclerosis9
The expression of miR-513c and miR-3163 was downregulated in tumor tissues compared with normal adjacent tissue of patients with breast cancer9
Comprehensive tumor molecular profile analysis in clinical practice8
Accuracy and reproducibility of somatic point mutation calling in clinical-type targeted sequencing data8
Analysis of H3K4me3 and H3K27me3 bivalent promotors in HER2+ breast cancer cell lines reveals variations depending on estrogen receptor status and significantly correlates with gene expression8
Constructing cancer patient-specific and group-specific gene networks with multi-omics data8
Estimating causal effects of atherogenic lipid-related traits on COVID-19 susceptibility and severity using a two-sample Mendelian randomization approach8
SCNrank: spectral clustering for network-based ranking to reveal potential drug targets and its application in pancreatic ductal adenocarcinoma8
Genome-wide survey of tandem repeats by nanopore sequencing shows that disease-associated repeats are more polymorphic in the general population8
Predicting miRNA-disease associations using a hybrid feature representation in the heterogeneous network8
Clinically relevant combined effect of polygenic background, rare pathogenic germline variants, and family history on colorectal cancer incidence8
Comprehensive pan-cancer analysis on CBX3 as a prognostic and immunological biomarker8
Familial SYN1 variants related neurodevelopmental disorders in Asian pediatric patients8
Transcriptomic analysis reveals pathophysiological relationship between chronic obstructive pulmonary disease (COPD) and periodontitis8
Atypical deletion of Williams–Beuren syndrome reveals the mechanism of neurodevelopmental disorders8
Haplotyping by linked-read sequencing (HLRS) of the genetic disease carriers for preimplantation genetic testing without a proband or relatives8
Long noncoding RNA and messenger RNA abnormalities in pediatric sepsis: a preliminary study8
Methylenetetrahydrofolate reductase gene polymorphism, global DNA methylation and blood pressure: a population based study from North India8
Genome-wide analysis of retinal transcriptome reveals common genetic network underlying perception of contrast and optical defocus detection8
Transcriptome sequencing identified the ceRNA network associated with recurrent spontaneous abortion8
FAM201A, a long noncoding RNA potentially associated with atrial fibrillation identified by ceRNA network analyses and WGCNA8
Mutational and clinical spectrum of Japanese patients with hereditary hemorrhagic telangiectasia8
Absolute measurement of the tissue origins of cell-free DNA in the healthy state and following paracetamol overdose8
Role of ATF3 as a prognostic biomarker and correlation of ATF3 expression with macrophage infiltration in hepatocellular carcinoma8
RNA-seq analysis reveals significant transcriptome changes in huntingtin-null human neuroblastoma cells8
Association between STAT4 gene polymorphism and type 2 diabetes risk in Chinese Han population7
DBCSMOTE: a clustering-based oversampling technique for data-imbalanced warfarin dose prediction7
Unraveling the molecular heterogeneity in type 2 diabetes: a potential subtype discovery followed by metabolic modeling7
A novel recessive PDZD7 bi-allelic mutation in an Iranian family with non-syndromic hearing loss7
Pan-cancer analysis of differential DNA methylation patterns7
Dilated cardiomyopathy caused by a pathogenic nucleotide variant in RBM20 in an Iranian family7
MAD1L1 and TSNARE gene polymorphisms are associated with schizophrenia susceptibility in the Han Chinese population7
ECNano: A cost-effective workflow for target enrichment sequencing and accurate variant calling on 4800 clinically significant genes using a single MinION flowcell7
Integrated transcriptome and proteome analyses identify novel regulatory network of nucleus pulposus cells in intervertebral disc degeneration7
Exploring the association between specific genes and the onset of idiopathic scoliosis: a systematic review7
TNFPred: identifying tumor necrosis factors using hybrid features based on word embeddings7
A dynamic systems view of clinical genomics: a rich picture of the landscape in Australia using a complexity science lens7
XenoCell: classification of cellular barcodes in single cell experiments from xenograft samples7
Whole-exome sequencing identified a novel heterozygous mutation of SALL1 and a new homozygous mutation of PTPRQ in a Chinese family with Townes-Brocks syndrome and hearing loss7
Repeat to gene expression ratios in leukemic blast cells can stratify risk prediction in acute myeloid leukemia7
Identification of the pivotal role of SPP1 in kidney stone disease based on multiple bioinformatics analysis7
Expanding the phenotype associated with SMARCC2 variants: a fetus with tetralogy of Fallot7
E. coli diversity: low in colorectal cancer7
Identification of the ferroptosis-related long non-coding RNAs signature to improve the prognosis prediction and immunotherapy response in patients with NSCLC7
Mutation profiling in eight cases of vagal paragangliomas7
Fraternal twins with Phelan-McDermid syndrome not involving the SHANK3 gene: case report and literature review7
Risk stratification of lung adenocarcinoma using a nomogram combined with ferroptosis-related LncRNAs and subgroup analysis with immune and N6-methyladenosine modification7
Dysferlinopathy misdiagnosed with juvenile polymyositis in the pre-symptomatic stage of hyperCKemia: a case report and literature review7
Profiles of immune cell infiltration and immune-related genes in the tumor microenvironment of esophageal squamous cell carcinoma7
Identification of a novel autophagy-related prognostic signature and small molecule drugs for glioblastoma by bioinformatics7
Identification of key genes in calcific aortic valve disease via weighted gene co-expression network analysis7
Identification of a novel KAT6A variant in an infant presenting with facial dysmorphism and developmental delay: a case report and literature review7
Identification of super enhancer-associated key genes for prognosis of germinal center B-cell type diffuse large B-cell lymphoma by integrated analysis7
Involvement of NEK2 and its interaction with NDC80 and CEP250 in hepatocellular carcinoma7
Pseudogene-gene functional networks are prognostic of patient survival in breast cancer7
Diagnostic yield of rare skeletal dysplasia conditions in the radiogenomics era7
Sequencing of neurofilament genes identified NEFH Ser787Arg as a novel risk variant of sporadic amyotrophic lateral sclerosis in Chinese subjects6
Variant analysis of 92 Chinese Han families with hearing loss6
The correlation between promoter hypermethylation of VDR, CLDN, and CasR genes and recurrent stone formation6
Genome scale analysis of pathogenic variants targetable for single base editing6
Genomic amplification of chromosome 20q13.33 is the early biomarker for the development of sporadic colorectal carcinoma6
Circulating adiponectin levels, expression of adiponectin receptors, and methylation of adiponectin gene promoter in relation to Alzheimer’s disease6
Novel copy number variations within SYCE1 caused meiotic arrest and non-obstructive azoospermia6
Mediation role of body fat distribution (FD) on the relationship between CAV1 rs3807992 polymorphism and metabolic syndrome in overweight and obese women6
Unraveling synonymous and deep intronic variants causing aberrant splicing in two genetically undiagnosed epilepsy families6
Novel method of real-time PCR-based screening for common fetal trisomies6
Characterization of genome-wide association study data reveals spatiotemporal heterogeneity of mental disorders6
Coding and non-coding RNA interactions reveal immune-related pathways in peripheral blood mononuclear cells derived from patients with proliferative vitreoretinopathy6
Comparative evaluation of network features for the prediction of breast cancer metastasis6
Association of SMAD7 genetic markers and haplotypes with colorectal cancer risk6
Comprehensive analysis of prognostic value and immune infiltration of kindlin family members in non-small cell lung cancer6
Xp11.22 duplications in four unrelated Chinese families: delineating the genotype-phenotype relationship for HSD17B10 and FGD16
PPARD rs2016520 (T/C) and NOS1AP rs12742393 (A/C) polymorphisms affect therapeutic efficacy of nateglinide in Chinese patients with type 2 diabetes mellitus6
Genomic landscape, immune characteristics and prognostic mutation signature of cervical cancer in China6
Identification of hub genes and regulatory networks in histologically unstable carotid atherosclerotic plaque by bioinformatics analysis6
MyoMiner: explore gene co-expression in normal and pathological muscle6
Novel prognostic genes and subclasses of acute myeloid leukemia revealed by survival analysis of gene expression data6
The circular RNA hsa_circ_000780 as a potential molecular diagnostic target for gastric cancer6
Comparative transcriptome analysis of human skeletal muscle in response to cold acclimation and exercise training in human volunteers6
Genetic and epigenetic associations of ANRIL with coronary artery disease and risk factors6
Phenotypic spectrum and genetics of PAX2-related disorder in the Chinese cohort6
Association of single nucleotide polymorphisms with insulin secretion, insulin sensitivity, and diabetes in women with a history of gestational diabetes mellitus6
Noninvasive prenatal diagnosis of monogenic disorders based on direct haplotype phasing through targeted linked-read sequencing6
A novel prognostic model for hepatocellular carcinoma based on 5 microRNAs related to vascular invasion6
APEX1 regulates alternative splicing of key tumorigenesis genes in non-small-cell lung cancer6
Identification of major depressive disorder disease-related genes and functional pathways based on system dynamic changes of network connectivity6
LncRNA PTCSC3 is upregulated in osteoporosis and negatively regulates osteoblast apoptosis6
Co-expression analysis to identify key modules and hub genes associated with COVID-19 in platelets6
Psychomotor development and attention problems caused by a splicing variant of CNKSR26
Transcriptomic biomarker pathways associated with death in HIV-infected patients with cryptococcal meningitis6
Diagnostic challenges in a CMMRD patient with a novel mutation in the PMS2 gene: a case report6
Exploring the association of long noncoding RNA expression profiles with intracranial aneurysms, based on sequencing and related bioinformatics analysis6
Genomic profile of MYCN non-amplified neuroblastoma and potential for immunotherapeutic strategies in neuroblastoma6
Systematic pan-cancer analysis identifies SLC31A1 as a biomarker in multiple tumor types6
Identification of miRNA-mRNA associations in hepatocellular carcinoma using hierarchical integrative model6
Genetic aetiology of primary adrenal insufficiency in Chinese children6
Comprehensive analysis of prognostic value and immune infiltration of CXC chemokines in pancreatic cancer6
Effect of ACE, ACE2 and CYP11B2 gene polymorphisms and noise on essential hypertension among steelworkers in China: a case–control study5
Broadening our understanding of genetic risk for scleroderma/systemic sclerosis by querying the chromatin architecture surrounding the risk haplotypes5
Identification of biological correlates associated with respiratory failure in COVID-195
TERT rs2736100 and TERC rs16847897 genotypes moderate the association between internalizing mental disorders and accelerated telomere length attrition among HIV+ children and adolescents in Uganda5
Correlating genomic copy number alterations with clinicopathologic findings in 75 cases of hepatocellular carcinoma5
A multiplex PCR amplicon sequencing assay to screen genetic hearing loss variants in newborns5
Multiple metastases of androgen indifferent prostate cancer in the urinary tract: two case reports and a literature review5
HBV genome-enriched single cell sequencing revealed heterogeneity in HBV-driven hepatocellular carcinoma (HCC)5
Noninvasive prenatal diagnosis of duchenne muscular dystrophy in five Chinese families based on relative mutation dosage approach5
ERα-related chromothripsis enhances concordant gene transcription on chromosome 17q11.1-q24.1 in luminal breast cancer5
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