Genome Medicine

Article	Citations
Correction: Intricate interplay of CRISPR-Cas systems, anti-CRISPR proteins, and antimicrobial resistance genes in a globally successful multi-drug resistant Klebsiella pneumoniae clone	338
Loss of p53-DREAM-mediated repression of cell cycle genes as a driver of lymph node metastasis in head and neck cancer	291
Genome-aware annotation of CRISPR guides validates targets in variant cell lines and enhances discovery in screens	275
The role of admixture in the rare variant contribution to inflammatory bowel disease	266
Leveraging new methods for comprehensive characterization of mitochondrial DNA in esophageal squamous cell carcinoma	182
Pervasiveness of HLA allele-specific expression loss across tumor types	177
Circulating DNA reveals nucleosome occupancy patterns that are associated with nucleosome-DNA affinity and are affected in cancer	127
Integration of genetic evidence to identify approved drug targets	113
Curating genomic disease-gene relationships with Gene2Phenotype (G2P)	112
Neutrophil extracellular traps have auto-catabolic activity and produce mononucleosome-associated circulating DNA	107
VariantMedium: sensitive and generalizable somatic point mutation calling with 3D DenseNets trained and evaluated on experimental data	104
Single-molecule methylation profiles of cell-free DNA in cancer with nanopore sequencing	103
Beyond the exome: utility of long-read whole genome sequencing in exome-negative autosomal recessive diseases	100
Genome-wide methylation detection and episignature analysis using PacBio long-read sequencing	98
African ancestry-enriched variants in the GATM gene are associated with elevated serum creatinine levels	96
Single-cell transcriptome analysis defines novel molecular subtypes and reveals therapeutic implications of T/myeloid mixed-phenotype acute leukemia	95
The multiple de novo copy number variant (MdnCNV) phenomenon presents with peri-zygotic DNA mutational signatures and multilocus pathogenic variation	88
Clinical characteristics and molecular heterogeneity in Follicular lymphoma with extranodal involvement	86
Ethnic variations in metabolic syndrome components and their associations with the gut microbiota: the HELIUS study	85
Universal clinical Parkinson’s disease axes identify a major influence of neuroinflammation	80
De novo identification of expressed cancer somatic mutations from single-cell RNA sequencing data	79
Publisher Correction: Analysis of transcriptomic features reveals molecular endotypes of SLE with clinical implications	75
Investigating the interplay between prematurity and genetic variation in the context of rare developmental disorders	73
Whole-genome sequencing reveals individual and cohort level insights into chromosome 9p syndromes	71
The impact of the COVID-19 pandemic and associated lifestyle changes on early-life microbiome development	70

DNA demethylation triggers cell free DNA release in colorectal cancer cells	70
INSaFLU-TELEVIR: an open web-based bioinformatics suite for viral metagenomic detection and routine genomic surveillance	69
The lung microbiome, peripheral gene expression, and recurrence-free survival after resection of stage II non-small cell lung cancer	69
Adult genomic medicine: lessons from a multisite study of 2700 patients	69
Replication-associated mechanisms contribute to an increased CpG > TpG mutation burden in mismatch repair-deficient cancers	66
GWAS-by-subtraction reveals new genetic architecture and health implications of type 2 diabetes-independent gestational diabetes mellitus	66
Shared genetic architecture between irritable bowel syndrome and psychiatric disorders reveals molecular pathways of the gut-brain axis	65
Contribution of rare coding variants to microcephaly in individuals with neurodevelopmental disorders	63
Glioblastoma-instructed microglia transition to heterogeneous phenotypic states with phagocytic and dendritic cell-like features in patient tumors and patient-derived orthotopic xenografts	61
Single-cell transcriptomics reveals a mechanosensitive injury signaling pathway in early diabetic nephropathy	60
Spatial intra-tumour heterogeneity and treatment-induced genomic evolution in oesophageal adenocarcinoma: implications for prognosis and therapy	60
The landcape of Helicobacter pylori-mediated DNA breaks links bacterial genotoxicity to its oncogenic potential	60
Tracing carriage, acquisition, and transmission of ESBL-producing Escherichia coli over two years in a tertiary care hospital	59
Biological basis of extensive pleiotropy between blood traits and cancer risk	59
A human YEATS4 variant confers resistance to TST and IGRA conversion despite Mycobacterium tuberculosis exposure	58
MicroRNA gene dynamics in immune cell subpopulations during aging and atherosclerosis disease development at single-cell resolution	58
Genomic and transcriptomic features between primary and paired metastatic fumarate hydratase–deficient renal cell carcinoma	57
Transcriptome-wide association study revealed novel causal genes of renal-biopsy proven diabetic nephropathy	57
Correction: Genome Med 15, 115 & Genome Med 16, 3	56
Neutralization sensitivity, fusogenicity, and infectivity of Omicron subvariants	55
Identifying intra-hospital Norovirus GII transmission using whole-genome sequencing	55
Metabolome-wide Mendelian randomization for age at menarche and age at natural menopause	53
Full-spectral genome analysis of natural killer/T cell lymphoma highlights impacts of genome instability in driving its progression	52
Cancer evolution and multi-omic profile of relapsed colorectal liver metastases after treatment	52
Skeletal muscle regeneration failure in ischemic-damaged limbs is associated with pro-inflammatory macrophages and premature differentiation of satellite cells	51
Single-nucleus RNA sequencing of human pancreatic islets identifies novel gene sets and distinguishes β-cell subpopulations with dynamic transcriptome profiles	51
ClinVar and HGMD genomic variant classification accuracy has improved over time, as measured by implied disease burden	50
Comprehensive pathogen identification and antimicrobial resistance prediction from positive blood cultures using nanopore sequencing technology	49
DNA methylation memory of pancreatic acinar-ductal metaplasia transition state altering Kras-downstream PI3K and Rho GTPase signaling in the absence of Kras mutation	49
Longitudinal analysis of genetic and environmental interplay in human metabolic profiles and the implication for metabolic health	49
The WID-CIN test identifies women with, and at risk of, cervical intraepithelial neoplasia grade 3 and invasive cervical cancer	49
NeoGuider: neoepitope prediction using advanced feature engineering	48
Malaria-MOI: A flexible and scalable tool for predicting multiplicity of infection in malaria parasites	48
In vivo adenine base editing of mutant Galc gene ameliorates Krabbe disease progression	48
Empirical evaluation of analytic validity of polygenic scores	47
Tissue-specific gene dosage disruption is a key feature and pathogenic mechanism of structural variants in the human genome	47
TP53 germline testing and hereditary cancer: how somatic events and clinical criteria affect variant detection rate	46
Succinate supplementation ameliorates musculoskeletal defects caused by PLOD3 mutations in a BCARD syndrome model	46
Multi-label transcriptional classification of colorectal cancer reflects tumor cell population heterogeneity	45
The telomere maintenance mechanism spectrum and its dynamics in gliomas	45
High fluoroquinolone resistance proportions among multidrug-resistant tuberculosis driven by dominant L2 Mycobacterium tuberculosis clones in the Mumbai Metropolitan Region	44
Applications of long-read sequencing to Mendelian genetics	43
A novel molecular signature identifies mixed subtypes in renal cell carcinoma with poor prognosis and independent response to immunotherapy	42
Epigenomic preconditioning of peripheral monocytes determines their transcriptional response to the tumor microenvironment	42
Longitudinal analysis within one hospital in sub-Saharan Africa over 20 years reveals repeated replacements of dominant clones of Klebsiella pneumoniae and stresses the importance to include temporal	41
Single-cell transcriptomic analysis reveals tumor cell heterogeneity and immune microenvironment features of pituitary neuroendocrine tumors	41
Psychiatric genetic liability is associated with the severity of COVID-19 and other acute respiratory infections: an observational study across five Northern European countries	40
Refining epigenetic prediction of chronological and biological age	39
Optimized high-throughput whole-genome sequencing workflow for surveillance of influenza A virus	39
Long-read genome sequencing enhances diagnostics of pediatric neurological disorders	39

Transcriptional immunogenomic analysis reveals distinct immunological clusters in paediatric nervous system tumours	38
Influence network model uncovers relations between biological processes and mutational signatures	38
Correction: Acetyl-CoA metabolism drives epigenome change and contributes to carcinogenesis risk in fatty liver disease	38
Genome sequencing for the diagnosis of intellectual disability as a paradigm for rare diseases in the French healthcare setting: the prospective DEFIDIAG study	37
A robust deep learning workflow to predict CD8 + T-cell epitopes	37
Large-scale copy number alterations are enriched for synthetic viability in BRCA1/BRCA2 tumors	37
Integrated study of systemic and local airway transcriptomes in asthma reveals causal mediation of systemic effects by airway key drivers	37
Multiomics assessment of lung adenocarcinoma subtypes defined through tumor purity-adjusted DNA methylation	36
Applicability of epigenetic age models to next-generation methylation arrays	36
Clonal evolution in primary breast cancers under sequential epirubicin and docetaxel monotherapy	35
The TyphiNET data visualisation dashboard: unlocking Salmonella Typhi genomics data to support public health	35
Identification of novel protein biomarkers and drug targets for colorectal cancer by integrating human plasma proteome with genome	35
Cell type-specific changes identified by single-cell transcriptomics in Alzheimer’s disease	34
Prematurity and genetic liability for autism spectrum disorder	34
Circulating tumor DNA precision oncology enables effective and sensitive molecular diagnostics and actionable target detection in pediatric solid tumors - the INFORM experience	33
Single-cell analysis of the progeria arterial wall reveals progerin-induced progressive, cell type-specific dysfunction and somatic mutation accumulation	33
Plasma microRNA signatures of aging and their links to health outcomes and mortality: findings from a population-based cohort study	32
Detection of primary cancer types via fragment size selection in circulating cell-free extrachromosomal circular DNA	32
MGCL-ST: multi-view graph contrastive learning for spatial transcriptomics imputation	32
SARS-CoV-2 infection induces a long-lived pro-inflammatory transcriptional profile	32
Clinical and bacterial determinants of unfavorable tuberculosis treatment outcomes: an observational study in Georgia	32
Prioritizing genes associated with brain disorders by leveraging enhancer-promoter interactions in diverse neural cells and tissues	31
NODAL variants are associated with a continuum of laterality defects from simple D-transposition of the great arteries to heterotaxy	31
EMB is essential for enteric nervous system development mediated by PI3K signaling	31
MorphoITH: a framework for deconvolving intra-tumor heterogeneity using tissue morphology	31
imply: improving cell-type deconvolution accuracy using personalized reference profiles	31
Return of non-ACMG recommended incidental genetic findings to pediatric patients: considerations and opportunities from experiences in genomic sequencing	30
Identification of diagnostic candidates in Mendelian disorders using an RNA sequencing-centric approach	30
Integrating metabolomics and proteomics to identify novel drug targets for heart failure and atrial fibrillation	30
Typhi Mykrobe: fast and accurate lineage identification and antimicrobial resistance genotyping directly from sequence reads for the typhoid fever agent Salmonella Typhi	30
Multi-omics reveals cholesterol-driven macrophage metabolic reprogramming and inflammation in chronic obstructive pulmonary disease	30
Microglial heterogeneity in the ischemic stroke mouse brain of both sexes	30
Survival Genie 2: a next-generation web server for targeted and single-cell-based survival analyses	30
Knockout mice with pituitary malformations help identify human cases of hypopituitarism	29
Multi-omics uncovers immune-modulatory molecules in plasma contributing to resistance exercise-ameliorated locomotor disability after incomplete spinal cord injury	29
STModule: identifying tissue modules to uncover spatial components and characteristics of transcriptomic landscapes	29
ENU-based dominant genetic screen identifies contractile and neuronal gene mutations in congenital heart disease	29
Proteomic landscape analysis of undifferentiated pleomorphic sarcoma	29
Post-vaccine epidemiology of serotype 3 pneumococci identifies transformation inhibition through prophage-driven alteration of a non-coding RNA	29
A bench-to-data analysis workflow for respiratory syncytial virus whole-genome sequencing with short and long-read approaches	29
Multimodal-based analysis of single-cell ATAC-seq data enables highly accurate delineation of clinically relevant tumor cell subpopulations	29
Spatial ecology of breast cancer reveals co-evolution of proliferative and dormant niches	28
Correction: Patient induced pluripotent stem cells identify specificities of a reticular pseudodrusen phenotype in age-related macular degeneration	28
The role of genetic testing in diagnosis and care of inherited cardiac conditions in a specialised multidisciplinary clinic	28
Identification of specific susceptibility loci for the early-onset colorectal cancer	28
Meta-analysis identifies common gut microbiota associated with multiple sclerosis	28
Evaluating genome sequencing strategies: trio, singleton, and standard testing in rare disease diagnosis	28
Polygenic risk for Alzheimer’s disease in healthy aging: age-related and APOE-driven effects on brain structures and cognition	28
Genome sequencing as a generic diagnostic strategy for rare disease	28
An integrated platform for concurrent structural and single-nucleotide variants improves copy-number detection and reveals pathogenic alleles in undiagnosed Mendelian families	27
Smoking-associated gene expression alterations in nasal epithelium reveal immune impairment linked to lung cancer risk	27
Distinct pathways for genetic and epigenetic predisposition in familial and bilateral Wilms tumor	27
Tumor-naïve ctDNA detection with deep learning-enhanced error suppression for sensitive mutation calling	27
Long-term persistence of diverse clones shapes the transmission landscape of invasive Listeria monocytogenes	27
Evaluating the use of paralogous protein domains to increase data availability for missense variant classification	27
The impact of damaging epilepsy and cardiac genetic variant burden in sudden death in the young	27
Metronidazole response profiles of Gardnerella species are congruent with phylogenetic and comparative genomic analyses	26
ACT-Discover: identifying karyotype heterogeneity in pancreatic cancer evolution using ctDNA	26
The case for including proteomics in routine diagnostic practice for rare disease	26
Meiotic and mitotic aneuploidies drive arrest of in vitro fertilized human preimplantation embryos	25
Spatiotemporal single-cell analysis elucidates the cellular and molecular dynamics of human cornea aging	25
A new method for detecting mixed Mycobacterium tuberculosis infection and reconstructing constituent strains provides insights into transmission	25
Spatial multi-omics characterization of neuroblastoma reveals ferroptosis-associated metabolic features in high-risk tumors	25
The emergence of highly resistant and hypervirulent Klebsiella pneumoniae CC14 clone in a tertiary hospital over 8 years	25
Personalized transcriptional network analysis links age-related loss of gene coordination to individual biological aging	24
Using multi-scale genomics to associate poorly annotated genes with rare diseases	24
Multi-omics reveals key molecular and cellular features of advanced small cell lung cancers associated with distinct therapeutic opportunities	24
Mendelian randomization analyses suggest a causal role for circulating GIP and IL-1RA levels in homeostatic model assessment-derived measures of β-cell function and insulin sensitivity in Africans wit	24
Dynamics of tumor ecosystems and microbiome in response to neoadjuvant ABFOLFOX treatment in patients with unresectable colorectal cancer with liver metastasis	24
Distinct pathway-based effects of blood pressure and body mass index on cardiovascular traits: comparison of novel Mendelian randomization approaches	24
Disease-specific epigenetic deregulation of enhancers, transposons, and polycomb targets in acute promyelocytic leukemia	24
Single base focal hypermutation cooccurs with structural variation as an early event in advanced prostate tumourigenesis with ancestry specific independence: a multi-ancestral observational study	23
Cardiomyopathies in 100,000 genomes project: interval evaluation improves diagnostic yield and informs strategies for ongoing gene discovery	23
Intratumor heterogeneity and T cell exhaustion in primary CNS lymphoma	23
A proteomics analysis of 5xFAD mouse brain regions reveals the lysosome-associated protein Arl8b as a candidate biomarker for Alzheimer’s disease	23
Location and condition based reconstruction of colon cancer microbiome from human RNA sequencing data	23
Co-occurrence of transcriptionally distinct persister cell states underpins neoadjuvant therapy resistance in triple‑negative breast cancer	23
Trimodal, uncertainty-guided whole-slide framework for genome-scale spatial expression and image-only virtual perturbation in cancer cohorts	22
DNA methylation analysis of NOTCH1 variants reveals the first episignature for non-syndromic congenital heart defects	22
Ganciclovir-induced mutations are present in a diverse spectrum of post-transplant malignancies	22

spSeudoMap: cell type mapping of spatial transcriptomics using unmatched single-cell RNA-seq data	22
Multi-omics profiles of sex hormone-binding globulin are associated with subclinical atherosclerosis in men with HIV	22
Tandem repeat polymorphisms are associated with brain structure: results of two large population-based studies	22
Accumulation of copy number alterations and clinical progression across advanced prostate cancer	22
Spatial transcriptomics analysis of neoadjuvant cabozantinib and nivolumab in advanced hepatocellular carcinoma identifies independent mechanisms of resistance and recurrence	21
Genetically supported drug target prioritization for rare diseases	21
Identification of a PRDM1-regulated T cell network to regulate atherosclerotic plaque inflammation	21
Combining multiplexed functional data to improve variant classification	21
Molecular-guided therapy for the treatment of patients with relapsed and refractory childhood cancers: a Beat Childhood Cancer Research Consortium trial	21
Integrative analysis of spatial and single-cell transcriptome data from human pancreatic cancer reveals an intermediate cancer cell population associated with poor prognosis	21
SARS-CoV-2 population dynamics in immunocompetent individuals in a closed transmission chain shows genomic diversity over the course of infection	21
Therapy sculpts the complex interplay between cancer and the immune system during tumour evolution	21
Building digital histology models of transcriptional tumor programs with generative deep learning for pathology-based precision medicine	20
varCADD: large sets of standing genetic variation enable genome-wide pathogenicity prediction	20
A computational framework for sensitive tumor detection and accurate subtyping using shallow cell-free DNA methylome sequencing	20
Non-coding cis-regulatory variants in HK1 cause congenital hyperinsulinism with variable disease severity	20
An expedited screening platform for the discovery of anti-ageing compounds in vitro and in vivo	20
Rare variation in neurological disease genes and its role in multiple sclerosis mimicry and phenotype	20
Molecular characteristics of breast tumors in patients screened for germline predisposition from a population-based observational study	20
Genomic landscape of endometrial polyps	20
Defining type 2 diabetes polygenic risk scores through colocalization and network-based clustering of metabolic trait genetic associations	20
Effect of clonal hematopoiesis on plaque morphology and prognosis in patients with acute myocardial infarction	19
A genome-based survey of invasive pneumococci in Norway over four decades reveals lineage-specific responses to vaccination	19
Life Identification Number (LIN) codes for the genomic taxonomy of Corynebacterium diphtheriae strains	19
Dual functional genomics reveals a broad and convergent landscape of asciminib resistance in BCR::ABL1	19
Single-cell profiling of response to neoadjuvant chemo-immunotherapy in surgically resectable esophageal squamous cell carcinoma	19
Keeping up with the pathogens: improved antimicrobial resistance detection and prediction from Pseudomonas aeruginosa genomes	19
clinTALL: machine learning-driven multimodal subtype classification and treatment outcome prediction in pediatric T-ALL	19
Unprocessed U1 snRNAs as a biomarker of INTS11- and BRAT1-related neurodevelopmental disorders	18
Predicting MHC-I ligands across alleles and species: how far can we go?	18
Aligned cross-modal integration and regulatory heterogeneity characterization of single-cell multiomic data with deep contrastive learning	18
Single cell multiomics revealed fibrotic trajectories of endometrial cells and interaction with the pro-fibrotic macrophages in intrauterine adhesion	18
Impact of genetic risk and lifestyles on cardiovascular disease-free and total life expectancy: a cohort study	18
PredIG: an interpretable predictor of T-cell epitope immunogenicity	18
mRNA-based precision targeting of neoantigens and tumor-associated antigens in malignant brain tumors	18
Race-specific coregulatory and transcriptomic profiles associated with DNA methylation and androgen receptor in prostate cancer	17
Spatial-reprogramming derived GPNMB+ macrophages interact with COL6A3+ fibroblasts to enhance vascular fibrosis in glioblastoma	17
Correction: FOXC1-mediated LINC00301 facilitates tumor progression and triggers an immune-suppressing microenvironment in non-small cell lung cancer by regulating the HIF1α pathway	17
Genomic characterisation of recurrent Mycobacterium avium isolates from chronically infected patients reveals patterns of within-host evolution	17
Comparative genomics identifies small interfering RNA with activity against all five human betacoronaviruses	17
CRAG: de novo characterization of cell-free DNA fragmentation hotspots in plasma whole-genome sequencing	17
Genome Tunisia Project: paving the way for precision medicine in North Africa	17
The clinical utility of rapid exome sequencing in a consanguineous population	17
SpaPheno: linking spatial transcriptomics to clinical phenotypes with interpretable machine learning	17
Mutation-Attention (MuAt): deep representation learning of somatic mutations for tumour typing and subtyping	17
Diagnostic yield of genetic screening in a diverse, community-ascertained cohort	16
Development of a consensus molecular classifier for pancreatic ductal adenocarcinoma	16
Identifying latent genetic interactions in genome-wide association studies using multiple traits	16
Illuminating links between cis-regulators and trans-acting variants in the human prefrontal cortex	16
A novel transcriptional signature identifies T-cell infiltration in high-risk paediatric cancer	16
Epigenetic profiles of tissue informative CpGs inform ALS disease status and progression	16
KleTy: integrated typing scheme for core genome and plasmids reveals repeated emergence of multi-drug resistant epidemic lineages in Klebsiella worldwide	16
Circadian regulation of cardiovascular function: from physiology to clinical implications	16
Clinical and genomic features of Mycobacterium avium complex: a multi-national European study	16
Exome-wide association study reveals common and rare coding variants shaping chronic pain in 327,642 UK biobank participants	16
Spatiotemporal evolution of the clear cell renal cell carcinoma microenvironment links intra-tumoral heterogeneity to immune escape	16
Discovering novel germline genetic variants linked to severe fluoropyrimidine-related toxicity in- and outside DPYD	16
Cell-type-specific subtyping of epigenomes improves prognostic stratification of cancer	16
Rare copy-number variants as modulators of common disease susceptibility	16
Predicting the presence of coronary plaques featuring high-risk characteristics using polygenic risk scores and targeted proteomics in patients with suspected coronary artery disease	16
Single-cell genomic and transcriptomic landscapes of primary and metastatic colorectal cancer tumors	16
Genome-wide prediction of pathogenic gain- and loss-of-function variants from ensemble learning of a diverse feature set	15
The genetics and epidemiology of N- and O-immunoglobulin A glycomics	15
Rare subclonal sequencing of breast cancers indicates putative metastatic driver mutations are predominately acquired after dissemination	15
Recommendations for bioinformatics in clinical practice	15
Phenotype rescue through the restoration of full-length dystrophin using CRISPR/Cas9 genome editing in Duchenne muscular dystrophy patient-derived iPSCs carrying the deletion of two exons	15
Somatic copy number alterations profiling in non-small cell lung cancer and their correlation with clinical efficacy in first-line treatment	15
The gut microbiota in multiple sclerosis varies with disease activity	15
Microbial cell-free DNA for rapid pathogen identification in clinical diagnostics: a proof of concept study	15
Discriminating activating, deactivating and resistance variants in protein kinases	15
Systematic analysis of Mendelian disease-associated gene variants reveals new classes of cancer-predisposing genes	15
Molecular profiling of the Basal-like intrinsic molecular subtype in primary ER-positive HER2-negative breast cancer	15
Mechanistic insights into the interactions between cancer drivers and the tumour immune microenvironment	14
Bi-allelic variants in BRF2 are associated with perinatal death and craniofacial anomalies	14
The CXCL16/CXCR6 axis is linked to immune effector cell-associated neurotoxicity in chimeric antigen receptor (CAR) T cell therapy	14
Early detection of hepatocellular carcinoma via no end-repair enzymatic methylation sequencing of cell-free DNA and pre-trained neural network	14
Systemic multi-omics analysis reveals interferon response heterogeneity and links lipid metabolism to immune alterations in severe COVID-19	14
Multi-omics profiling of the diabetic human heart reveals coupled dysregulation in lipid metabolism, mitophagy, and extracellular matrix remodeling	14
Pathogenic CGG expansions in oculopharyngodistal myopathy exhibit distinct characteristics of each causative gene on the flanking sequences as well as methylation status	14
CTpathway: a CrossTalk-based pathway enrichment analysis method for cancer research	14
Automated prioritization of sick newborns for whole genome sequencing using clinical natural language processing and machine learning	14
Health benefits of a five-day at-home modified fasting program: a randomised controlled trial	14
Correction: Rapid molecular diagnostics of tuberculosis resistance by targeted stool sequencing	14
Utilizing genomics to identify novel immunotherapeutic targets in multiple myeloma high-risk subgroups	14
RNA polymerase I is essential for driving the formation of 3D genome in early embryonic development in mouse, but not in human	14
Global survey of extraintestinal pathogenic Escherichia coli identifies stable serogroup-virulence-resistance linkages	14
Predicted loss-of-function variants before Met584 in ARID1B in population cohorts likely reflect reduced penetrance and should be reported diagnostically	14
PhenoDP: leveraging deep learning for phenotype-based case reporting, disease ranking, and symptom recommendation	14
Single-cell transcriptomics reveals common epithelial response patterns in human acute kidney injury	14
An optimized variant prioritization process for rare disease diagnostics: recommendations for Exomiser and Genomiser	13
DNA methylation biomarkers-based pan-cancer classifier: predictive modeling for cancer classification	13
Sequencing individual genomes with recurrent genomic disorder deletions: an approach to characterize genes for autosomal recessive rare disease traits	13
Multi-centered T cell repertoire profiling identifies alterations in the immune repertoire of individuals with inflammatory bowel disease across different disease stages	13
A single-cell atlas of Schwannoma across genetic backgrounds and anatomic locations	13
Single-cell analysis of immune and stroma cell remodeling in clear cell renal cell carcinoma primary tumors and bone metastatic lesions	13