BMC Medical Genomics

Article	Citations
Convolutional neural network models for cancer type prediction based on gene expression	100
Detection of gene fusions using targeted next-generation sequencing: a comparative evaluation	57
Genome-wide association meta-analysis for early age-related macular degeneration highlights novel loci and insights for advanced disease	57
Deep learning-based cancer survival prognosis from RNA-seq data: approaches and evaluations	49
A random forest based biomarker discovery and power analysis framework for diagnostics research	42
Integration analysis of long non-coding RNA (lncRNA) role in tumorigenesis of colon adenocarcinoma	42
Prediction of circRNA-disease associations based on inductive matrix completion	41
A pan-cancer study of class-3 semaphorins as therapeutic targets in cancer	40
Using Ethereum blockchain to store and query pharmacogenomics data via smart contracts	38
Machine learning based refined differential gene expression analysis of pediatric sepsis	33
Modifiable lifestyle factors and severe COVID-19 risk: a Mendelian randomisation study	31
Performance of cell-free DNA sequencing-based non-invasive prenatal testing: experience on 36,456 singleton and multiple pregnancies	29
Islet-expressed circular RNAs are associated with type 2 diabetes status in human primary islets and in peripheral blood	29
Study protocol: Whole genome sequencing Implementation in standard Diagnostics for Every cancer patient (WIDE)	29
Exosomal microRNAs are novel circulating biomarkers in cigarette, waterpipe smokers, E-cigarette users and dual smokers	28
Design and user experience testing of a polygenic score report: a qualitative study of prospective users	27
The landscape of GWAS validation; systematic review identifying 309 validated non-coding variants across 130 human diseases	27
Detecting copy number variation in next generation sequencing data from diagnostic gene panels	26
A pan-cancer study of selenoprotein genes as promising targets for cancer therapy	25
Whole-exome sequencing in 168 Korean patients with inherited retinal degeneration	24
Construction and analysis of a lncRNA-miRNA-mRNA network based on competitive endogenous RNA reveal functional lncRNAs in oral cancer	24
Identification of potential therapeutic targets for atherosclerosis by analysing the gene signature related to different immune cells and immune regulators in atheromatous plaques	24
Gene variants associated with acne vulgaris presentation and severity: a systematic review and meta-analysis	22
Identifying the role of transient receptor potential channels (TRPs) in kidney renal clear cell carcinoma and their potential therapeutic significances using genomic and transcriptome analyses	22
Bioinformatic analysis reveals an exosomal miRNA-mRNA network in colorectal cancer	21

TOP2A and CENPF are synergistic master regulators activated in cervical cancer	21
High performance logistic regression for privacy-preserving genome analysis	21
Identification of potential crucial genes in atrial fibrillation: a bioinformatic analysis	20
iDASH secure genome analysis competition 2018: blockchain genomic data access logging, homomorphic encryption on GWAS, and DNA segment searching	20
Comprehensive analysis of angiogenesis-related genes and pathways in early diabetic retinopathy	20
Integrated CNV-seq, karyotyping and SNP-array analyses for effective prenatal diagnosis of chromosomal mosaicism	20
Cancer gene expression profiles associated with clinical outcomes to chemotherapy treatments	19
Next-generation sequencing analysis of endometrial screening liquid-based cytology specimens: a comparative study to tissue specimens	19
Expanding the application of non-invasive prenatal testing in the detection of foetal chromosomal copy number variations	19
Analysis of exosomal circRNAs upon irradiation in pancreatic cancer cell repopulation	18
Achieving GWAS with homomorphic encryption	18
Integrative analyses of biomarkers and pathways for heart failure	18
Identification of seven novel ferroptosis-related long non-coding RNA signatures as a diagnostic biomarker for acute myeloid leukemia	18
SARS-COV-2 as potential microRNA sponge in COVID-19 patients	18
Identification of genes and miRNA associated with idiopathic recurrent pregnancy loss: an exploratory data mining study	18
Integrated analysis of lncRNA–miRNA–mRNA ceRNA network and the potential prognosis indicators in sarcomas	18
Expanded noninvasive prenatal testing for fetal aneuploidy and copy number variations and parental willingness for invasive diagnosis in a cohort of 18,516 cases	17
In-silico performance, validation, and modeling of the Nanostring Banff Human Organ transplant gene panel using archival data from human kidney transplants	17
Characterization of genetic and phenotypic heterogeneity of obstructive sleep apnea using electronic health records	17
Somatic synonymous mutations in regulatory elements contribute to the genetic aetiology of melanoma	17
SARS-CoV-2: tracing the origin, tracking the evolution	17
Fusion transcript detection using spatial transcriptomics	17
Leveraging blockchain for immutable logging and querying across multiple sites	17
Genetic association between CDKN2B/CDKN2B-AS1 gene polymorphisms with primary glaucoma in a North Indian cohort: an original study and an updated meta-analysis	16
Transcription factor expression as a predictor of colon cancer prognosis: a machine learning practice	16
Network-based drug sensitivity prediction	16
Identification of monocyte-associated genes as predictive biomarkers of heart failure after acute myocardial infarction	16
Characterizing sensitivity and coverage of clinical WGS as a diagnostic test for genetic disorders	16
Expression profile of circRNA in peripheral blood mononuclear cells of patients with rheumatoid arthritis	16
Privacy-preserving approximate GWAS computation based on homomorphic encryption	16
A blood RNA transcriptome signature for COVID-19	16
Detection of leukemia gene fusions by targeted RNA-sequencing in routine diagnostics	16
Genomic analysis of circular RNAs in heart	16
Privacy-preserving semi-parallel logistic regression training with fully homomorphic encryption	16
Integrative analyses of gene expression profile reveal potential crucial roles of mitotic cell cycle and microtubule cytoskeleton in pulmonary artery hypertension	15
Transcriptome analysis of peripheral whole blood identifies crucial lncRNAs implicated in childhood asthma	15
Untargeted metabolomic approach to study the serum metabolites in women with polycystic ovary syndrome	15
Long non-coding RNA profiling of pediatric Medulloblastoma	15
Considering the APOE locus in Alzheimer’s disease polygenic scores in the Health and Retirement Study: a longitudinal panel study	15
Breast and prostate cancers harbor common somatic copy number alterations that consistently differ by race and are associated with survival	15
ProGeo-neo: a customized proteogenomic workflow for neoantigen prediction and selection	14
MicroRNA related prognosis biomarkers from high throughput sequencing data of kidney renal clear cell carcinoma	14
Identification of contributing genes of Huntington’s disease by machine learning	14
Whole genome sequencing in the diagnosis of primary ciliary dyskinesia	14
Genetically determined tobacco and alcohol use and risk of atrial fibrillation	14
DNA methylation abnormalities of imprinted genes in congenital heart disease: a pilot study	14
A method for cryopreservation and single nucleus RNA-sequencing of normal adult human interventricular septum heart tissue reveals cellular diversity and function	13
miRNAs expression signature potentially associated with lymphatic dissemination in locally advanced prostate cancer	13
Comprehensive analysis of ferroptosis-related genes and prognosis of cutaneous melanoma	13
Robust biomarker discovery for hepatocellular carcinoma from high-throughput data by multiple feature selection methods	13

Improving lung cancer risk stratification leveraging whole transcriptome RNA sequencing and machine learning across multiple cohorts	13
Using blockchain to log genome dataset access: efficient storage and query	13
Ancestry specific associations of a genetic risk score, dietary patterns and metabolic syndrome: a longitudinal ARIC study	13
EARN: an ensemble machine learning algorithm to predict driver genes in metastatic breast cancer	13
DIA proteomics analysis through serum profiles reveals the significant proteins as candidate biomarkers in women with PCOS	13
Metastatic and recurrent adrenocortical cancer is not defined by its genomic landscape	13
Epigenetic loci for blood pressure are associated with hypertensive target organ damage in older African Americans from the genetic epidemiology network of Arteriopathy (GENOA) study	13
Prevalence and clinical phenotype of the triplicated α-globin genes and its ethnic and geographical distribution in Guizhou of China	12
Gene networks and transcriptional regulators associated with liver cancer development and progression	12
Analysis of potential genetic biomarkers using machine learning methods and immune infiltration regulatory mechanisms underlying atrial fibrillation	12
A novel defined risk signature based on pyroptosis-related genes can predict the prognosis of prostate cancer	12
Comparative analysis of somatic variant calling on matched FF and FFPE WGS samples	12
Comprehensive analysis of miRNA–mRNA regulatory network and potential drugs in chronic chagasic cardiomyopathy across human and mouse	12
Molecular epidemiology of SARS-CoV-2 isolated from COVID-19 family clusters	12
Efficient logging and querying for blockchain-based cross-site genomic dataset access audit	12
Obstructive sleep apnea and atrial fibrillation: insights from a bidirectional Mendelian randomization study	12
Evaluation of chromosomal abnormalities and copy number variations in fetuses with ultrasonic soft markers	12
Integrative genomics analysis of various omics data and networks identify risk genes and variants vulnerable to childhood-onset asthma	12
RNA sequencing of blood in coronary artery disease: involvement of regulatory T cell imbalance	12
Semi-Parallel logistic regression for GWAS on encrypted data	12
CD44 is a prognostic biomarker and correlated with immune infiltrates in gastric cancer	11
Novel susceptibility loci identified in a genome-wide association study of type 2 diabetes complications in population of Latvia	11
Analysis of risk allele frequencies of single nucleotide polymorphisms related to open-angle glaucoma in different ethnic groups	11
Role of a lipid metabolism-related lncRNA signature in risk stratification and immune microenvironment for colon cancer	11
Bioinformatic analysis revealing mitotic spindle assembly regulated NDC80 and MAD2L1 as prognostic biomarkers in non-small cell lung cancer development	11
MinION, a portable long-read sequencer, enables rapid vaginal microbiota analysis in a clinical setting	11
Clinicopathological investigation of secretory carcinoma cases including a successful treatment outcome using entrectinib for high-grade transformation: a case report	11
Optimized homomorphic encryption solution for secure genome-wide association studies	11
An integrative, genomic, transcriptomic and network-assisted study to identify genes associated with human cleft lip with or without cleft palate	11
Association of blood pressure with cognitive function at midlife: a Mendelian randomization study	11
Genetic basis of cannabis use: a systematic review	11
Weighted correlation network bioinformatics uncovers a key molecular biosignature driving the left-sided heart failure	11
Biomarker discovery in attention deficit hyperactivity disorder: RNA sequencing of whole blood in discordant twin and case-controlled cohorts	11
Identification of potential causal variants for premature ovarian failure by whole exome sequencing	11
Identification of key genes and functions of circulating tumor cells in multiple cancers through bioinformatic analysis	11
Mitochondrial GWAS and association of nuclear – mitochondrial epistasis with BMI in T1DM patients	10
Involvement of immune system and Epithelial–Mesenchymal-Transition in increased invasiveness of clustered circulatory tumor cells in breast cancer	10
IL-17A polymorphism (rs2275913) and levels are associated with preeclampsia pathogenesis in Chinese patients	10
Decentralized genomics audit logging via permissioned blockchain ledgering	10
CNKSR2-related neurodevelopmental and epilepsy disorder: a cohort of 13 new families and literature review indicating a predominance of loss of function pathogenic variants	10
Relationship of cytochrome P450 gene polymorphisms with blood concentrations of hydroxychloroquine and its metabolites and adverse drug reactions	10
Genome-wide association study identifies new loci associated with risk of HBV infection and disease progression	10
Profiling non-coding RNA levels with clinical classifiers in pediatric Crohn’s disease	10
Identification of biomarkers and pathogenesis in severe asthma by coexpression network analysis	10
MIPP-Seq: ultra-sensitive rapid detection and validation of low-frequency mosaic mutations	10
Whether, when, how, and how much? General public’s and cancer patients’ views about the disclosure of genomic secondary findings	10
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 di	10
Disclosure of clinically actionable genetic variants to thoracic aortic dissection biobank participants	10
Accuracy and reproducibility of somatic point mutation calling in clinical-type targeted sequencing data	9
What is the right sequencing approach? Solo VS extended family analysis in consanguineous populations	9
Familial SYN1 variants related neurodevelopmental disorders in Asian pediatric patients	9
Expression correlation attenuates within and between key signaling pathways in chronic kidney disease	9
Role of ATF3 as a prognostic biomarker and correlation of ATF3 expression with macrophage infiltration in hepatocellular carcinoma	9
Competing endogenous RNA network analysis explores the key lncRNAs, miRNAs, and mRNAs in type 1 diabetes	9
Identifying of 22q11.2 variations in Chinese patients with development delay	9
The expression of miR-513c and miR-3163 was downregulated in tumor tissues compared with normal adjacent tissue of patients with breast cancer	9
The diagnostic yield of intellectual disability: combined whole genome low-coverage sequencing and medical exome sequencing	9
Frequent POLE-driven hypermutation in ovarian endometrioid cancer revealed by mutational signatures in RNA sequencing	9
Functional genomics of AP-2α and AP-2γ in cancers: in silico study	9
Novel missense mutation of SASH1 in a Chinese family with dyschromatosis universalis hereditaria	9
Mitochondrial tRNA methylation in Alzheimer’s disease and progressive supranuclear palsy	9
Genome-wide survey of tandem repeats by nanopore sequencing shows that disease-associated repeats are more polymorphic in the general population	9
Clinically relevant combined effect of polygenic background, rare pathogenic germline variants, and family history on colorectal cancer incidence	9
Validation of whole genome sequencing from dried blood spots	9
Transcriptomic analysis reveals pathophysiological relationship between chronic obstructive pulmonary disease (COPD) and periodontitis	9
Construction and investigation of a combined hypoxia and stemness index lncRNA-associated ceRNA regulatory network in lung adenocarcinoma	9
The landscape of alternative splicing in HIV-1 infected CD4 T-cells	9
Genetic colocalization atlas points to common regulatory sites and genes for hematopoietic traits and hematopoietic contributions to disease phenotypes	9
Dense module searching for gene networks associated with multiple sclerosis	9
Comprehensive tumor molecular profile analysis in clinical practice	9
DBCSMOTE: a clustering-based oversampling technique for data-imbalanced warfarin dose prediction	8
Predicting miRNA-disease associations using a hybrid feature representation in the heterogeneous network	8
Transcriptome sequencing identified the ceRNA network associated with recurrent spontaneous abortion	8
FAM201A, a long noncoding RNA potentially associated with atrial fibrillation identified by ceRNA network analyses and WGCNA	8
TNFPred: identifying tumor necrosis factors using hybrid features based on word embeddings	8
XenoCell: classification of cellular barcodes in single cell experiments from xenograft samples	8
SCNrank: spectral clustering for network-based ranking to reveal potential drug targets and its application in pancreatic ductal adenocarcinoma	8
Methylenetetrahydrofolate reductase gene polymorphism, global DNA methylation and blood pressure: a population based study from North India	8
Genome-wide analysis of retinal transcriptome reveals common genetic network underlying perception of contrast and optical defocus detection	8
Comprehensive analysis of prognostic value and immune infiltration of kindlin family members in non-small cell lung cancer	8

Constructing cancer patient-specific and group-specific gene networks with multi-omics data	8
Mutational and clinical spectrum of Japanese patients with hereditary hemorrhagic telangiectasia	8
Absolute measurement of the tissue origins of cell-free DNA in the healthy state and following paracetamol overdose	8
Haplotyping by linked-read sequencing (HLRS) of the genetic disease carriers for preimplantation genetic testing without a proband or relatives	8
RNA-seq analysis reveals significant transcriptome changes in huntingtin-null human neuroblastoma cells	8
Comprehensive pan-cancer analysis on CBX3 as a prognostic and immunological biomarker	8
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 expression	8
Risk stratification of lung adenocarcinoma using a nomogram combined with ferroptosis-related LncRNAs and subgroup analysis with immune and N6-methyladenosine modification	8
Estimating causal effects of atherogenic lipid-related traits on COVID-19 susceptibility and severity using a two-sample Mendelian randomization approach	8
Identification of super enhancer-associated key genes for prognosis of germinal center B-cell type diffuse large B-cell lymphoma by integrated analysis	7
Mutation profiling in eight cases of vagal paragangliomas	7
Involvement of NEK2 and its interaction with NDC80 and CEP250 in hepatocellular carcinoma	7
Pseudogene-gene functional networks are prognostic of patient survival in breast cancer	7
Identification of a novel autophagy-related prognostic signature and small molecule drugs for glioblastoma by bioinformatics	7
Fraternal twins with Phelan-McDermid syndrome not involving the SHANK3 gene: case report and literature review	7
Identification of the pivotal role of SPP1 in kidney stone disease based on multiple bioinformatics analysis	7
Association between STAT4 gene polymorphism and type 2 diabetes risk in Chinese Han population	7
E. coli diversity: low in colorectal cancer	7
Dysferlinopathy misdiagnosed with juvenile polymyositis in the pre-symptomatic stage of hyperCKemia: a case report and literature review	7
Repeat to gene expression ratios in leukemic blast cells can stratify risk prediction in acute myeloid leukemia	7
Co-expression analysis to identify key modules and hub genes associated with COVID-19 in platelets	7
Genomic amplification of chromosome 20q13.33 is the early biomarker for the development of sporadic colorectal carcinoma	7
ECNano: A cost-effective workflow for target enrichment sequencing and accurate variant calling on 4800 clinically significant genes using a single MinION flowcell	7
Genetic and epigenetic associations of ANRIL with coronary artery disease and risk factors	7
Unraveling the molecular heterogeneity in type 2 diabetes: a potential subtype discovery followed by metabolic modeling	7
Association between genetic variants of the cholinergic system and postoperative delirium and cognitive dysfunction in elderly patients	7
Pan-cancer analysis of differential DNA methylation patterns	7
Systematic pan-cancer analysis identifies SLC31A1 as a biomarker in multiple tumor types	7
Identification of a novel KAT6A variant in an infant presenting with facial dysmorphism and developmental delay: a case report and literature review	7
Diagnostic yield of rare skeletal dysplasia conditions in the radiogenomics era	7
Profiles of immune cell infiltration and immune-related genes in the tumor microenvironment of esophageal squamous cell carcinoma	7
Atypical deletion of Williams–Beuren syndrome reveals the mechanism of neurodevelopmental disorders	7
Identification of key genes in calcific aortic valve disease via weighted gene co-expression network analysis	7
Expanding the phenotype associated with SMARCC2 variants: a fetus with tetralogy of Fallot	7
Identification of the ferroptosis-related long non-coding RNAs signature to improve the prognosis prediction and immunotherapy response in patients with NSCLC	7
Integrated transcriptome and proteome analyses identify novel regulatory network of nucleus pulposus cells in intervertebral disc degeneration	7
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 loss	7
Exploring the association between specific genes and the onset of idiopathic scoliosis: a systematic review	7
Genomic profile of MYCN non-amplified neuroblastoma and potential for immunotherapeutic strategies in neuroblastoma	7
Comparative evaluation of network features for the prediction of breast cancer metastasis	7
MAD1L1 and TSNARE gene polymorphisms are associated with schizophrenia susceptibility in the Han Chinese population	7
A dynamic systems view of clinical genomics: a rich picture of the landscape in Australia using a complexity science lens	7
A novel recessive PDZD7 bi-allelic mutation in an Iranian family with non-syndromic hearing loss	7
Identification of major depressive disorder disease-related genes and functional pathways based on system dynamic changes of network connectivity	7
Dilated cardiomyopathy caused by a pathogenic nucleotide variant in RBM20 in an Iranian family	7
MyoMiner: explore gene co-expression in normal and pathological muscle	6
Psychomotor development and attention problems caused by a splicing variant of CNKSR2	6
The circular RNA hsa_circ_000780 as a potential molecular diagnostic target for gastric cancer	6
Unraveling synonymous and deep intronic variants causing aberrant splicing in two genetically undiagnosed epilepsy families	6
HBV genome-enriched single cell sequencing revealed heterogeneity in HBV-driven hepatocellular carcinoma (HCC)	6
Novel method of real-time PCR-based screening for common fetal trisomies	6
Association of single nucleotide polymorphisms with insulin secretion, insulin sensitivity, and diabetes in women with a history of gestational diabetes mellitus	6
Coding and non-coding RNA interactions reveal immune-related pathways in peripheral blood mononuclear cells derived from patients with proliferative vitreoretinopathy	6
Association of SMAD7 genetic markers and haplotypes with colorectal cancer risk	6
APEX1 regulates alternative splicing of key tumorigenesis genes in non-small-cell lung cancer	6
Variant analysis of 92 Chinese Han families with hearing loss	6
In silico analysis suggests disruption of interactions between HAMP from hepatocytes and SLC40A1 from macrophages in hepatocellular carcinoma	6
The correlation between promoter hypermethylation of VDR, CLDN, and CasR genes and recurrent stone formation	6
Genome scale analysis of pathogenic variants targetable for single base editing	6
Transcriptomic biomarker pathways associated with death in HIV-infected patients with cryptococcal meningitis	6
Novel prognostic genes and subclasses of acute myeloid leukemia revealed by survival analysis of gene expression data	6
Circulating adiponectin levels, expression of adiponectin receptors, and methylation of adiponectin gene promoter in relation to Alzheimer’s disease	6
Diagnostic challenges in a CMMRD patient with a novel mutation in the PMS2 gene: a case report	6
Characterization of genome-wide association study data reveals spatiotemporal heterogeneity of mental disorders	6
A novel nonsense mutation in ARMC5 causes primary bilateral macronodular adrenocortical hyperplasia	6
Genetic aetiology of primary adrenal insufficiency in Chinese children	6
Comprehensive analysis of prognostic value and immune infiltration of CXC chemokines in pancreatic cancer	6
A novel prognostic model for hepatocellular carcinoma based on 5 microRNAs related to vascular invasion	6
RNA sequencing analysis reveals increased expression of interferon signaling genes and dysregulation of bone metabolism affecting pathways in the whole blood of patients with osteogenesis imperfecta	6
Xp11.22 duplications in four unrelated Chinese families: delineating the genotype-phenotype relationship for HSD17B10 and FGD1	6
Identifying key genes and functionally enriched pathways in Th2-high asthma by weighted gene co-expression network analysis	6
PPARD rs2016520 (T/C) and NOS1AP rs12742393 (A/C) polymorphisms affect therapeutic efficacy of nateglinide in Chinese patients with type 2 diabetes mellitus	6
Identification of hub genes and regulatory networks in histologically unstable carotid atherosclerotic plaque by bioinformatics analysis	6
Mediation role of body fat distribution (FD) on the relationship between CAV1 rs3807992 polymorphism and metabolic syndrome in overweight and obese women	6
Novel copy number variations within SYCE1 caused meiotic arrest and non-obstructive azoospermia	6
Exploring the association of long noncoding RNA expression profiles with intracranial aneurysms, based on sequencing and related bioinformatics analysis	6
Comparative transcriptome analysis of human skeletal muscle in response to cold acclimation and exercise training in human volunteers	6
Phenotypic spectrum and genetics of PAX2-related disorder in the Chinese cohort	6
Considerations for feature selection using gene pairs and applications in large-scale dataset integration, novel oncogene discovery, and interpretable cancer screening	6
Noninvasive prenatal diagnosis of monogenic disorders based on direct haplotype phasing through targeted linked-read sequencing	6
Sequencing of neurofilament genes identified NEFH Ser787Arg as a novel risk variant of sporadic amyotrophic lateral sclerosis in Chinese subjects	6
Genetic liability to age at first sex and birth in relation to cardiovascular diseases: a Mendelian randomization study	6
LncRNA weighted gene co-expression network analysis reveals novel biomarkers related to prostate cancer metastasis	6
Lung disease network reveals impact of comorbidity on SARS-CoV-2 infection and opportunities of drug repurposing	6
Genomic landscape, immune characteristics and prognostic mutation signature of cervical cancer in China	6
LncRNA PTCSC3 is upregulated in osteoporosis and negatively regulates osteoblast apoptosis	6
Effect of ACE, ACE2 and CYP11B2 gene polymorphisms and noise on essential hypertension among steelworkers in China: a case–control study	5
Correlating genomic copy number alterations with clinicopathologic findings in 75 cases of hepatocellular carcinoma	5
A multiplex PCR amplicon sequencing assay to screen genetic hearing loss variants in newborns	5
TERT rs2736100 and TERC rs16847897 genotypes moderate the association between internalizing mental disorders and accelerated telomere length attrition among HIV+ children and adolescents in Uganda	5
Noninvasive prenatal diagnosis of duchenne muscular dystrophy in five Chinese families based on relative mutation dosage approach	5
ERα-related chromothripsis enhances concordant gene transcription on chromosome 17q11.1-q24.1 in luminal breast cancer	5
A genomic mutation spectrum of collecting duct carcinoma in the Chinese population	5
Broadening our understanding of genetic risk for scleroderma/systemic sclerosis by querying the chromatin architecture surrounding the risk haplotypes	5
Identification of biological correlates associated with respiratory failure in COVID-19	5