Genome Medicine

Article	Citations
Polygenic risk scores: from research tools to clinical instruments	658
CADD-Splice—improving genome-wide variant effect prediction using deep learning-derived splice scores	377
Characterisation of the transcriptome and proteome of SARS-CoV-2 reveals a cell passage induced in-frame deletion of the furin-like cleavage site from the spike glycoprotein	358
dbNSFP v4: a comprehensive database of transcript-specific functional predictions and annotations for human nonsynonymous and splice-site SNVs	307
Deep learning in cancer diagnosis, prognosis and treatment selection	285
An introduction to spatial transcriptomics for biomedical research	211
Disease severity-specific neutrophil signatures in blood transcriptomes stratify COVID-19 patients	186
Best practices for variant calling in clinical sequencing	185
Understanding the impact of antibiotic perturbation on the human microbiome	153
Single-cell transcriptome analysis of tumor and stromal compartments of pancreatic ductal adenocarcinoma primary tumors and metastatic lesions	133
Integration of whole genome sequencing into a healthcare setting: high diagnostic rates across multiple clinical entities in 3219 rare disease patients	121
IFN-γ and TNF-α drive a CXCL10+ CCL2+ macrophage phenotype expanded in severe COVID-19 lungs and inflammatory diseases with tissue inflammation	115
A guide for the diagnosis of rare and undiagnosed disease: beyond the exome	111
Transcriptome-wide profiles of circular RNA and RNA-binding protein interactions reveal effects on circular RNA biogenesis and cancer pathway expression	110
Single-cell RNA sequencing reveals the tumor microenvironment and facilitates strategic choices to circumvent treatment failure in a chemorefractory bladder cancer patient	106
FOXC1-mediated LINC00301 facilitates tumor progression and triggers an immune-suppressing microenvironment in non-small cell lung cancer by regulating the HIF1α pathway	106
Human breast microbiome correlates with prognostic features and immunological signatures in breast cancer	103
Multiple approaches for massively parallel sequencing of SARS-CoV-2 genomes directly from clinical samples	102
DeepProg: an ensemble of deep-learning and machine-learning models for prognosis prediction using multi-omics data	94
CoronaHiT: high-throughput sequencing of SARS-CoV-2 genomes	89
Integrated analysis of microbiome and host transcriptome reveals correlations between gut microbiota and clinical outcomes in HBV-related hepatocellular carcinoma	89
Microglial PGC-1α protects against ischemic brain injury by suppressing neuroinflammation	88
A Klebsiella pneumoniae ST307 outbreak clone from Germany demonstrates features of extensive drug resistance, hypermucoviscosity, and enhanced iron acquisition	86
Intra-host variation and evolutionary dynamics of SARS-CoV-2 populations in COVID-19 patients	86
Single-nucleus transcriptome analysis of human brain immune response in patients with severe COVID-19	83

Guild-based analysis for understanding gut microbiome in human health and diseases	82
Clinical trial design in the era of precision medicine	81
Integrated analysis of single-cell and bulk RNA sequencing data reveals a pan-cancer stemness signature predicting immunotherapy response	81
Small-molecule MMP2/MMP9 inhibitor SB-3CT modulates tumor immune surveillance by regulating PD-L1	81
Polygenic risk scores in the clinic: new perspectives needed on familiar ethical issues	80
Robust barcoding and identification of Mycobacterium tuberculosis lineages for epidemiological and clinical studies	79
Clinical implementation of RNA sequencing for Mendelian disease diagnostics	78
Role of the intestinal microbiome and microbial-derived metabolites in immune checkpoint blockade immunotherapy of cancer	77
Strain-level epidemiology of microbial communities and the human microbiome	74
High-grade serous tubo-ovarian cancer refined with single-cell RNA sequencing: specific cell subtypes influence survival and determine molecular subtype classification	74
MHC-I genotype and tumor mutational burden predict response to immunotherapy	69
The neuroimmune axis of Alzheimer’s disease	68
Dietary fiber intake, the gut microbiome, and chronic systemic inflammation in a cohort of adult men	67
A community-driven resource for genomic epidemiology and antimicrobial resistance prediction of Neisseria gonorrhoeae at Pathogenwatch	67
Sequence-based prediction of SARS-CoV-2 vaccine targets using a mass spectrometry-based bioinformatics predictor identifies immunogenic T cell epitopes	67
Mitochondrial DNA copy number can influence mortality and cardiovascular disease via methylation of nuclear DNA CpGs	66
Recommendations for clinical interpretation of variants found in non-coding regions of the genome	64
PRMT1-mediated H4R3me2a recruits SMARCA4 to promote colorectal cancer progression by enhancing EGFR signaling	64
A comparison of epigenetic mitotic-like clocks for cancer risk prediction	64
The murine Microenvironment Cell Population counter method to estimate abundance of tissue-infiltrating immune and stromal cell populations in murine samples using gene expression	64
Single-cell characterization of macrophages in glioblastoma reveals MARCO as a mesenchymal pro-tumor marker	63
Mobilization of the nonconjugative virulence plasmid from hypervirulent Klebsiella pneumoniae	63
Improved analysis of CRISPR fitness screens and reduced off-target effects with the BAGEL2 gene essentiality classifier	62
Microbial signature in IgE-mediated food allergies	62
Hepatocellular carcinoma patients with high circulating cytotoxic T cells and intra-tumoral immune signature benefit from pembrolizumab: results from a single-arm phase 2 trial	61
5′-tRF-GlyGCC: a tRNA-derived small RNA as a novel biomarker for colorectal cancer diagnosis	60
The landscape of host genetic factors involved in immune response to common viral infections	59
The complexities of the diet-microbiome relationship: advances and perspectives	58
Discovery of CD80 and CD86 as recent activation markers on regulatory T cells by protein-RNA single-cell analysis	57
Artificial intelligence enables comprehensive genome interpretation and nomination of candidate diagnoses for rare genetic diseases	56
Clinical laboratory test-wide association scan of polygenic scores identifies biomarkers of complex disease	53
Pervasive generation of non-canonical subgenomic RNAs by SARS-CoV-2	53
Microbiota restoration reduces antibiotic-resistant bacteria gut colonization in patients with recurrent Clostridioides difficile infection from the open-label PUNCH CD study	52
Distinct transcriptional programs stratify ovarian cancer cell lines into the five major histological subtypes	51
Somalier: rapid relatedness estimation for cancer and germline studies using efficient genome sketches	51
Rare deleterious mutations of HNRNP genes result in shared neurodevelopmental disorders	51
MDR M. tuberculosis outbreak clone in Eswatini missed by Xpert has elevated bedaquiline resistance dated to the pre-treatment era	51
Explaining decisions of graph convolutional neural networks: patient-specific molecular subnetworks responsible for metastasis prediction in breast cancer	49
The effects of the Green-Mediterranean diet on cardiometabolic health are linked to gut microbiome modifications: a randomized controlled trial	49
Molecular profiling of advanced malignancies guides first-line N-of-1 treatments in the I-PREDICT treatment-naïve study	49
Population genomics and antimicrobial resistance in Corynebacterium diphtheriae	48
Human reference gut microbiome catalog including newly assembled genomes from under-represented Asian metagenomes	47
Genetic diversity and characteristics of high-level tigecycline resistance Tet(X) in Acinetobacter species	46
Development and validation of a trans-ancestry polygenic risk score for type 2 diabetes in diverse populations	46
Cord blood DNA methylome in newborns later diagnosed with autism spectrum disorder reflects early dysregulation of neurodevelopmental and X-linked genes	46
Epigenetic signatures in cancer: proper controls, current challenges and the potential for clinical translation	44
Gut microbial determinants of clinically important improvement in patients with rheumatoid arthritis	43
Comprehensive mapping of binding hot spots of SARS-CoV-2 RBD-specific neutralizing antibodies for tracking immune escape variants	43
Deconvolution of cell type-specific drug responses in human tumor tissue with single-cell RNA-seq	43
Strain-resolved microbiome sequencing reveals mobile elements that drive bacterial competition on a clinical timescale	43

Whole-genome sequencing with long reads reveals complex structure and origin of structural variation in human genetic variations and somatic mutations in cancer	42
Epigenetic deregulation of lamina-associated domains in Hutchinson-Gilford progeria syndrome	42
SARS-CoV-2 vaccine ChAdOx1 nCoV-19 infection of human cell lines reveals low levels of viral backbone gene transcription alongside very high levels of SARS-CoV-2 S glycoprotein gene transcription	40
The Medical Genome Initiative: moving whole-genome sequencing for rare disease diagnosis to the clinic	39
Rare variant analysis of 4241 pulmonary arterial hypertension cases from an international consortium implicates FBLN2, PDGFD, and rare de novo variants in PAH	39
cfNOMe — A single assay for comprehensive epigenetic analyses of cell-free DNA	39
DNA methylation and body mass index from birth to adolescence: meta-analyses of epigenome-wide association studies	39
An atlas connecting shared genetic architecture of human diseases and molecular phenotypes provides insight into COVID-19 susceptibility	38
Ten-year longitudinal molecular epidemiology study of Escherichia coli and Klebsiella species bloodstream infections in Oxfordshire, UK	38
Implementing genomic screening in diverse populations	38
Identification of new driver and passenger mutations within APOBEC-induced hotspot mutations in bladder cancer	37
PLCG2 is associated with the inflammatory response and is induced by amyloid plaques in Alzheimer’s disease	37
Optimized polyepitope neoantigen DNA vaccines elicit neoantigen-specific immune responses in preclinical models and in clinical translation	37
Single-cell profiling of human dura and meningioma reveals cellular meningeal landscape and insights into meningioma immune response	37
Improved prediction of fracture risk leveraging a genome-wide polygenic risk score	37
Trans-ethnic gut microbiota signatures of type 2 diabetes in Denmark and India	36
ClinSV: clinical grade structural and copy number variant detection from whole genome sequencing data	36
Maintenance of the human memory T cell repertoire by subset and tissue site	36
Highly elevated polygenic risk scores are better predictors of myocardial infarction risk early in life than later	36
The global dissemination of hospital clones of Enterococcus faecium	35
Phylogroup stability contrasts with high within sequence type complex dynamics of Escherichia coli bloodstream infection isolates over a 12-year period	35
Demonstrating trustworthiness when collecting and sharing genomic data: public views across 22 countries	35
Characterization of the dual functional effects of heat shock proteins (HSPs) in cancer hallmarks to aid development of HSP inhibitors	34
Evaluating the potential for respiratory metagenomics to improve treatment of secondary infection and detection of nosocomial transmission on expanded COVID-19 intensive care units	34
Single-cell genomic and transcriptomic landscapes of primary and metastatic colorectal cancer tumors	34
Gut microbiota predicts body fat change following a low-energy diet: a PREVIEW intervention study	34
Ancestry-specific predisposing germline variants in cancer	34
Drivers of methicillin-resistant Staphylococcus aureus (MRSA) lineage replacement in China	34
ASXL3 bridges BRD4 to BAP1 complex and governs enhancer activity in small cell lung cancer	34
Detection of ctDNA in plasma of patients with clinically localised prostate cancer is associated with rapid disease progression	34
A population-based gene expression signature of molecular clock phase from a single epidermal sample	33
Molecular correlates and therapeutic targets in T cell-inflamed versus non-T cell-inflamed tumors across cancer types	33
ClinGen Variant Curation Interface: a variant classification platform for the application of evidence criteria from ACMG/AMP guidelines	33
Angiosarcoma heterogeneity and potential therapeutic vulnerability to immune checkpoint blockade: insights from genomic sequencing	33
Interaction of bacterial genera associated with therapeutic response to immune checkpoint PD-1 blockade in a United States cohort	33
Metabolic control by the microbiome	33
Editing GWAS: experimental approaches to dissect and exploit disease-associated genetic variation	32
Maternal and early life exposures and their potential to influence development of the microbiome	32
A global overview of genetically interpretable multimorbidities among common diseases in the UK Biobank	32
Fecal microbiota transplantation in gastrointestinal disorders: time for precision medicine	32
Exploiting genomics to mitigate the public health impact of antimicrobial resistance	32
A single early-in-life antibiotic course increases susceptibility to DSS-induced colitis	32
Multi-site tumor sampling highlights molecular intra-tumor heterogeneity in malignant pleural mesothelioma	32
Mendelian randomization analysis of 37 clinical factors and coronary artery disease in East Asian and European populations	31
CAPICE: a computational method for Consequence-Agnostic Pathogenicity Interpretation of Clinical Exome variations	31
Trans-ethnic gut microbial signatures of prediabetic subjects from India and Denmark	31
MetaRNN: differentiating rare pathogenic and rare benign missense SNVs and InDels using deep learning	31
Multi-method genome- and epigenome-wide studies of inflammatory protein levels in healthy older adults	30
Clinical implications of host genetic variation and susceptibility to severe or critical COVID-19	30
Genotype imputation and variability in polygenic risk score estimation	30
Anti-SARS-CoV-2 IgA and IgG in human milk after vaccination is dependent on vaccine type and previous SARS-CoV-2 exposure: a longitudinal study	29
Metagenomic prediction of antimicrobial resistance in critically ill patients with lower respiratory tract infections	29
The aging mouse microbiome has obesogenic characteristics	29
Epigenomics and transcriptomics of systemic sclerosis CD4+ T cells reveal long-range dysregulation of key inflammatory pathways mediated by disease-associated susceptibility loci	29
An international policy on returning genomic research results	29
Beyondcell: targeting cancer therapeutic heterogeneity in single-cell RNA-seq data	28
Tumor microenvironment remodeling after neoadjuvant immunotherapy in non-small cell lung cancer revealed by single-cell RNA sequencing	28
Effectiveness and safety of Bifidobacterium and berberine in human hyperglycemia and their regulatory effect on the gut microbiota: a multi-center, double-blind, randomized, parallel-controlled study	28
DNA methylation signature in blood mirrors successful weight-loss during lifestyle interventions: the CENTRAL trial	28
An implementation science approach to evaluating pathogen whole genome sequencing in public health	28
Human liver single nucleus and single cell RNA sequencing identify a hepatocellular carcinoma-associated cell-type affecting survival	28
GenTB: A user-friendly genome-based predictor for tuberculosis resistance powered by machine learning	28
Evaluating the transcriptional fidelity of cancer models	28
A mutation-based gene set predicts survival benefit after immunotherapy across multiple cancers and reveals the immune response landscape	28
Single-cell transcriptomics reveals common epithelial response patterns in human acute kidney injury	28
Crosstalk between microRNA expression and DNA methylation drives the hormone-dependent phenotype of breast cancer	27
A transcriptome-wide association study of Alzheimer’s disease using prediction models of relevant tissues identifies novel candidate susceptibility genes	27
Genome-scale CRISPR screens identify host factors that promote human coronavirus infection	27
Whole-genome sequencing as an investigational device for return of hereditary disease risk and pharmacogenomic results as part of the All of Us Research Program	27
Population study of the gut microbiome: associations with diet, lifestyle, and cardiometabolic disease	27
Genetic variation in the Middle East—an opportunity to advance the human genetics field	26
Single-cell multimodal analysis identifies common regulatory programs in synovial fibroblasts of rheumatoid arthritis patients and modeled TNF-driven arthritis	26
Comprehensive genomic and tumour immune profiling reveals potential therapeutic targets in malignant pleural mesothelioma	26
The colorectal cancer-associated faecal microbiome of developing countries resembles that of developed countries	26
X-CNV: genome-wide prediction of the pathogenicity of copy number variations	26
Bacteroides vulgatus and Bacteroides dorei predict immune-related adverse events in immune checkpoint blockade treatment of metastatic melanoma	26
Rare predicted loss-of-function variants of type I IFN immunity genes are associated with life-threatening COVID-19	26
Cryopreservation of human cancers conserves tumour heterogeneity for single-cell multi-omics analysis	26
A pipeline for complete characterization of complex germline rearrangements from long DNA reads	25
A lepidic gene signature predicts patient prognosis and sensitivity to immunotherapy in lung adenocarcinoma	25

Congruent microbiome signatures in fibrosis-prone autoimmune diseases: IgG4-related disease and systemic sclerosis	25
The gut microbiota in multiple sclerosis varies with disease activity	25
Identification of epigenome-wide DNA methylation differences between carriers of APOE ε4 and APOE ε2 alleles	25
The vaginal microbiota and innate immunity after local excisional treatment for cervical intraepithelial neoplasia	25
ESBL plasmids in Klebsiella pneumoniae: diversity, transmission and contribution to infection burden in the hospital setting	24
Tumor fraction-guided cell-free DNA profiling in metastatic solid tumor patients	24
Integrating single-cell sequencing data with GWAS summary statistics reveals CD16+monocytes and memory CD8+T cells involved in severe COVID-19	24
Refining epigenetic prediction of chronological and biological age	24
Prospective high-throughput genome profiling of advanced cancers: results of the PERMED-01 clinical trial	24
Multi-omics colocalization with genome-wide association studies reveals a context-specific genetic mechanism at a childhood onset asthma risk locus	24
Identification of TBX15 as an adipose master trans regulator of abdominal obesity genes	24
Variation in targetable genomic alterations in non-small cell lung cancer by genetic ancestry, sex, smoking history, and histology	23
scGRNom: a computational pipeline of integrative multi-omics analyses for predicting cell-type disease genes and regulatory networks	23
Identification of a cytokine-dominated immunosuppressive class in squamous cell lung carcinoma with implications for immunotherapy resistance	23
Emergence and evolution of antimicrobial resistance genes and mutations in Neisseria gonorrhoeae	23
Constructing germline research cohorts from the discarded reads of clinical tumor sequences	23
Whole-genome sequence association analysis of blood proteins in a longitudinal wellness cohort	23
Illuminating the human virome in health and disease	23
Genome-wide sequencing as a first-tier screening test for short tandem repeat expansions	22
The rate and spectrum of mosaic mutations during embryogenesis revealed by RNA sequencing of 49 tissues	22
Pan-cancer identification of clinically relevant genomic subtypes using outcome-weighted integrative clustering	22
DevKidCC allows for robust classification and direct comparisons of kidney organoid datasets	22
Destination shapes antibiotic resistance gene acquisitions, abundance increases, and diversity changes in Dutch travelers	22
Phenome-wide investigation of the causal associations between childhood BMI and adult trait outcomes: a two-sample Mendelian randomization study	22
Molecular profiling of human non-small cell lung cancer by single-cell RNA-seq	22
Calorie restriction improves metabolic state independently of gut microbiome composition: a randomized dietary intervention trial	21
Advancing precision public health using human genomics: examples from the field and future research opportunities	21
Predicting heterogeneity in clone-specific therapeutic vulnerabilities using single-cell transcriptomic signatures	21
Single cell characterization of B-lymphoid differentiation and leukemic cell states during chemotherapy in ETV6-RUNX1-positive pediatric leukemia identifies drug-targetable transcription factor activi	21
Mode and dynamics of vanA-type vancomycin resistance dissemination in Dutch hospitals	21
Integrative statistical analyses of multiple liquid biopsy analytes in metastatic breast cancer	21
Landscape and selection of vaccine epitopes in SARS-CoV-2	21
Large-scale genomic analysis of global Klebsiella pneumoniae plasmids reveals multiple simultaneous clusters of carbapenem-resistant hypervirulent strains	21
Family history assessment significantly enhances delivery of precision medicine in the genomics era	21
Epigenome-wide association study of kidney function identifies trans-ethnic and ethnic-specific loci	21
T cell receptor beta germline variability is revealed by inference from repertoire data	20
Single-cell transcriptomics reveal a unique memory-like NK cell subset that accumulates with ageing and correlates with disease severity in COVID-19	20
Biallelic variants in COPB1 cause a novel, severe intellectual disability syndrome with cataracts and variable microcephaly	20
The transcriptional landscape and biomarker potential of circular RNAs in prostate cancer	20
A small number of early introductions seeded widespread transmission of SARS-CoV-2 in Québec, Canada	20
Actionability of commercial laboratory sequencing panels for newborn screening and the importance of transparency for parental decision-making	20
Multi-tissue neocortical transcriptome-wide association study implicates 8 genes across 6 genomic loci in Alzheimer’s disease	20
Genetic and functional interaction network analysis reveals global enrichment of regulatory T cell genes influencing basal cell carcinoma susceptibility	20
Noninvasive prenatal testing of α-thalassemia and β-thalassemia through population-based parental haplotyping	19
Whole-genome sequence-informed MALDI-TOF MS diagnostics reveal importance of Klebsiella oxytoca group in invasive infections: a retrospective clinical study	19
The impact of genomics on precision public health: beyond the pandemic	19
Microbiota-associated risk factors for asymptomatic gut colonisation with multi-drug-resistant organisms in a Dutch nursing home	19
Breast cancer risks associated with missense variants in breast cancer susceptibility genes	19
Network-based approaches elucidate differences within APOBEC and clock-like signatures in breast cancer	19
Cell type-specific changes identified by single-cell transcriptomics in Alzheimer’s disease	19
Genetic and non-genetic factors affecting the expression of COVID-19-relevant genes in the large airway epithelium	19
Developmental dynamics of voltage-gated sodium channel isoform expression in the human and mouse brain	18
Development of double-positive thymocytes at single-cell resolution	18
Development of genome-wide polygenic risk scores for lipid traits and clinical applications for dyslipidemia, subclinical atherosclerosis, and diabetes cardiovascular complications among East Asians	18
Systematic comparison of published host gene expression signatures for bacterial/viral discrimination	18
Leveraging genomic diversity for discovery in an electronic health record linked biobank: the UCLA ATLAS Community Health Initiative	18
High-resolution temporal profiling of the human gut microbiome reveals consistent and cascading alterations in response to dietary glycans	18
Introduction and transmission of SARS-CoV-2 lineage B.1.1.7, Alpha variant, in Denmark	18
An 8-gene machine learning model improves clinical prediction of severe dengue progression	18
Investigation of a nonsense mutation located in the complex KIV-2 copy number variation region of apolipoprotein(a) in 10,910 individuals	18
Extracellular matrix profiles determine risk and prognosis of the squamous cell carcinoma subtype of non-small cell lung carcinoma	18
Functional interpretation of ATAD3A variants in neuro-mitochondrial phenotypes	18
Reanalysis of exome negative patients with rare disease: a pragmatic workflow for diagnostic applications	18
Patient-derived xenograft models capture genomic heterogeneity in endometrial cancer	18
Targeting CDC7 potentiates ATR-CHK1 signaling inhibition through induction of DNA replication stress in liver cancer	18
Comprehensive molecular characterization of gastric cancer patients from phase II second-line ramucirumab plus paclitaxel therapy trial	17
Transfer learning between preclinical models and human tumors identifies a conserved NK cell activation signature in anti-CTLA-4 responsive tumors	17
Integration of genetic, transcriptomic, and clinical data provides insight into 16p11.2 and 22q11.2 CNV genes	17
Inter-species geographic signatures for tracing horizontal gene transfer and long-term persistence of carbapenem resistance	17
A neurodegenerative disease landscape of rare mutations in Colombia due to founder effects	17
Pan-cancer detection of driver genes at the single-patient resolution	17
Genotype–phenotype correlations and novel molecular insights into the DHX30-associated neurodevelopmental disorders	17
Emerging genetic complexity and rare genetic variants in neurodegenerative brain diseases	17
A dynamic single cell-based framework for digital twins to prioritize disease genes and drug targets	17
REViewer: haplotype-resolved visualization of read alignments in and around tandem repeats	17
A one-year genomic investigation of Escherichia coli epidemiology and nosocomial spread at a large US healthcare network	17
Rapid molecular diagnostics of tuberculosis resistance by targeted stool sequencing	17
The lung microbiome, peripheral gene expression, and recurrence-free survival after resection of stage II non-small cell lung cancer	17
DNA methylome-wide association study of genetic risk for depression implicates antigen processing and immune responses	17
Multiscale heterogeneity in gastric adenocarcinoma evolution is an obstacle to precision medicine	16
The genetic case for cardiorespiratory fitness as a clinical vital sign and the routine prescription of physical activity in healthcare	16
High fluoroquinolone resistance proportions among multidrug-resistant tuberculosis driven by dominant L2 Mycobacterium tuberculosis clones in the Mumbai Metropolitan Region	16
Using single-nucleus RNA-sequencing to interrogate transcriptomic profiles of archived human pancreatic islets	16
Persistent variations of blood DNA methylation associated with treatment exposures and risk for cardiometabolic outcomes in long-term survivors of childhood cancer in the St. Jude Lifetime Cohort	16
A systematic analysis of splicing variants identifies new diagnoses in the 100,000 Genomes Project	16
Microbiota of the prostate tumor environment investigated by whole-transcriptome profiling	16
Application of exome sequencing for prenatal diagnosis of fetal structural anomalies: clinical experience and lessons learned from a cohort of 1618 fetuses	16
Spatiotemporal evolution of the clear cell renal cell carcinoma microenvironment links intra-tumoral heterogeneity to immune escape	16
Integrative genomic and transcriptomic analyses illuminate the ontology of HER2-low breast carcinomas	16
Single-cell RNA transcriptome analysis of CNS immune cells reveals CXCL16/CXCR6 as maintenance factors for tissue-resident T cells that drive synapse elimination	16
Applications of long-read sequencing to Mendelian genetics	16
An epigenetic and transcriptomic signature of immune tolerance in human monocytes through multi-omics integration	15
A multilayered post-GWAS assessment on genetic susceptibility to pancreatic cancer	15
Systems genetics analysis identifies calcium-signaling defects as novel cause of congenital heart disease	15
Somatic mutational profiles and germline polygenic risk scores in human cancer	15