Genome Medicine

Article	Citations
The role of admixture in the rare variant contribution to inflammatory bowel disease	579
Neutrophil extracellular traps have auto-catabolic activity and produce mononucleosome-associated circulating DNA	528
Correction: Intricate interplay of CRISPR-Cas systems, anti-CRISPR proteins, and antimicrobial resistance genes in a globally successful multi-drug resistant Klebsiella pneumoniae clone	229
Non-cancer-related pathogenic germline variants and expression consequences in ten-thousand cancer genomes	184
Genome-aware annotation of CRISPR guides validates targets in variant cell lines and enhances discovery in screens	182
Beyond the exome: utility of long-read whole genome sequencing in exome-negative autosomal recessive diseases	172
Loss of p53-DREAM-mediated repression of cell cycle genes as a driver of lymph node metastasis in head and neck cancer	159
Leveraging new methods for comprehensive characterization of mitochondrial DNA in esophageal squamous cell carcinoma	149
Curating genomic disease-gene relationships with Gene2Phenotype (G2P)	142
Single-molecule methylation profiles of cell-free DNA in cancer with nanopore sequencing	136
Pervasiveness of HLA allele-specific expression loss across tumor types	111
Glioblastoma-instructed microglia transition to heterogeneous phenotypic states with phagocytic and dendritic cell-like features in patient tumors and patient-derived orthotopic xenografts	109
Universal clinical Parkinson’s disease axes identify a major influence of neuroinflammation	109
Publisher Correction: Analysis of transcriptomic features reveals molecular endotypes of SLE with clinical implications	108
The multiple de novo copy number variant (MdnCNV) phenomenon presents with peri-zygotic DNA mutational signatures and multilocus pathogenic variation	98
De novo identification of expressed cancer somatic mutations from single-cell RNA sequencing data	92
Spatial intra-tumour heterogeneity and treatment-induced genomic evolution in oesophageal adenocarcinoma: implications for prognosis and therapy	89
Ethnic variations in metabolic syndrome components and their associations with the gut microbiota: the HELIUS study	85
INSaFLU-TELEVIR: an open web-based bioinformatics suite for viral metagenomic detection and routine genomic surveillance	81
The lung microbiome, peripheral gene expression, and recurrence-free survival after resection of stage II non-small cell lung cancer	76
DNA demethylation triggers cell free DNA release in colorectal cancer cells	74
The vaginal microbiota and innate immunity after local excisional treatment for cervical intraepithelial neoplasia	73
The landcape of Helicobacter pylori-mediated DNA breaks links bacterial genotoxicity to its oncogenic potential	72
Large-scale discovery of novel neurodevelopmental disorder-related genes through a unified analysis of single-nucleotide and copy number variants	70
Integrative epigenomic and high-throughput functional enhancer profiling reveals determinants of enhancer heterogeneity in gastric cancer	70

Shared genetic architecture between irritable bowel syndrome and psychiatric disorders reveals molecular pathways of the gut-brain axis	69
Diversity in EWAS: current state, challenges, and solutions	64
Tracing carriage, acquisition, and transmission of ESBL-producing Escherichia coli over two years in a tertiary care hospital	63
Full-spectral genome analysis of natural killer/T cell lymphoma highlights impacts of genome instability in driving its progression	63
Comprehensive pathogen identification and antimicrobial resistance prediction from positive blood cultures using nanopore sequencing technology	62
Using single-nucleus RNA-sequencing to interrogate transcriptomic profiles of archived human pancreatic islets	62
Single-nucleus RNA sequencing of human pancreatic islets identifies novel gene sets and distinguishes β-cell subpopulations with dynamic transcriptome profiles	61
Rapid whole genome sequencing of critically ill pediatric patients from genetically underrepresented populations	61
Metabolome-wide Mendelian randomization for age at menarche and age at natural menopause	61
Skeletal muscle regeneration failure in ischemic-damaged limbs is associated with pro-inflammatory macrophages and premature differentiation of satellite cells	60
Correction: Genome Med 15, 115 & Genome Med 16, 3	59
ClinVar and HGMD genomic variant classification accuracy has improved over time, as measured by implied disease burden	59
Biological basis of extensive pleiotropy between blood traits and cancer risk	59
Genomic and transcriptomic features between primary and paired metastatic fumarate hydratase–deficient renal cell carcinoma	56
Comprehensive multi-omics integration identifies differentially active enhancers during human brain development with clinical relevance	56
Single-cell transcriptomics reveals a mechanosensitive injury signaling pathway in early diabetic nephropathy	56
Neutralization sensitivity, fusogenicity, and infectivity of Omicron subvariants	53
Longitudinal analysis of genetic and environmental interplay in human metabolic profiles and the implication for metabolic health	51
TP53 germline testing and hereditary cancer: how somatic events and clinical criteria affect variant detection rate	49
Integrated genomic analyses of acral and mucosal melanomas nominate novel driver genes	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
The effects of the Green-Mediterranean diet on cardiometabolic health are linked to gut microbiome modifications: a randomized controlled trial	49
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	48
A small number of early introductions seeded widespread transmission of SARS-CoV-2 in Québec, Canada	48
Multi-label transcriptional classification of colorectal cancer reflects tumor cell population heterogeneity	48
The WID-CIN test identifies women with, and at risk of, cervical intraepithelial neoplasia grade 3 and invasive cervical cancer	47
A novel molecular signature identifies mixed subtypes in renal cell carcinoma with poor prognosis and independent response to immunotherapy	47
The telomere maintenance mechanism spectrum and its dynamics in gliomas	46
High fluoroquinolone resistance proportions among multidrug-resistant tuberculosis driven by dominant L2 Mycobacterium tuberculosis clones in the Mumbai Metropolitan Region	45
Applications of long-read sequencing to Mendelian genetics	45
Single-cell transcriptomic analysis reveals tumor cell heterogeneity and immune microenvironment features of pituitary neuroendocrine tumors	44
Acetyl-CoA metabolism drives epigenome change and contributes to carcinogenesis risk in fatty liver disease	44
Refining epigenetic prediction of chronological and biological age	43
Single-cell multimodal analysis identifies common regulatory programs in synovial fibroblasts of rheumatoid arthritis patients and modeled TNF-driven arthritis	43
Epigenomic preconditioning of peripheral monocytes determines their transcriptional response to the tumor microenvironment	43
Correction: Acetyl-CoA metabolism drives epigenome change and contributes to carcinogenesis risk in fatty liver disease	43
Influence network model uncovers relations between biological processes and mutational signatures	42
Cell type-specific changes identified by single-cell transcriptomics in Alzheimer’s disease	42
Applicability of epigenetic age models to next-generation methylation arrays	41
T cell receptor beta germline variability is revealed by inference from repertoire data	41
Integrated study of systemic and local airway transcriptomes in asthma reveals causal mediation of systemic effects by airway key drivers	40
Transcriptional immunogenomic analysis reveals distinct immunological clusters in paediatric nervous system tumours	39
A robust deep learning workflow to predict CD8 + T-cell epitopes	39
Large-scale copy number alterations are enriched for synthetic viability in BRCA1/BRCA2 tumors	39
The TyphiNET data visualisation dashboard: unlocking Salmonella Typhi genomics data to support public health	39
Neutralising reactivity against SARS-CoV-2 Delta and Omicron variants by vaccination and infection history	39
Clonal evolution in primary breast cancers under sequential epirubicin and docetaxel monotherapy	39
Integrating metabolomics and proteomics to identify novel drug targets for heart failure and atrial fibrillation	38
Prioritizing genes associated with brain disorders by leveraging enhancer-promoter interactions in diverse neural cells and tissues	38
Identification of diagnostic candidates in Mendelian disorders using an RNA sequencing-centric approach	38

NODAL variants are associated with a continuum of laterality defects from simple D-transposition of the great arteries to heterotaxy	38
Multiscale heterogeneity in gastric adenocarcinoma evolution is an obstacle to precision medicine	38
Plasma microRNA signatures of aging and their links to health outcomes and mortality: findings from a population-based cohort study	38
imply: improving cell-type deconvolution accuracy using personalized reference profiles	38
Identification of novel protein biomarkers and drug targets for colorectal cancer by integrating human plasma proteome with genome	38
SARS-CoV-2 infection induces a long-lived pro-inflammatory transcriptional profile	37
Recombination and lineage-specific mutations linked to the emergence of SARS-CoV-2	37
PLCG2 is associated with the inflammatory response and is induced by amyloid plaques in Alzheimer’s disease	36
Multi-omics uncovers immune-modulatory molecules in plasma contributing to resistance exercise-ameliorated locomotor disability after incomplete spinal cord injury	36
Addressing the routine failure to clinically identify monogenic cases of common disease	36
Return of non-ACMG recommended incidental genetic findings to pediatric patients: considerations and opportunities from experiences in genomic sequencing	36
Genome sequencing as a generic diagnostic strategy for rare disease	36
Microglial heterogeneity in the ischemic stroke mouse brain of both sexes	36
STModule: identifying tissue modules to uncover spatial components and characteristics of transcriptomic landscapes	36
The role of genetic testing in diagnosis and care of inherited cardiac conditions in a specialised multidisciplinary clinic	35
Identification of specific susceptibility loci for the early-onset colorectal cancer	35
Targeting CDC7 potentiates ATR-CHK1 signaling inhibition through induction of DNA replication stress in liver cancer	35
The impact of damaging epilepsy and cardiac genetic variant burden in sudden death in the young	35
Antiprogestins reduce epigenetic field cancerization in breast tissue of young healthy women	35
Germline HLA-B evolutionary divergence influences the efficacy of immune checkpoint blockade therapy in gastrointestinal cancer	34
Knockout mice with pituitary malformations help identify human cases of hypopituitarism	34
ENU-based dominant genetic screen identifies contractile and neuronal gene mutations in congenital heart disease	34
Identification of a cytokine-dominated immunosuppressive class in squamous cell lung carcinoma with implications for immunotherapy resistance	33
A dynamic single cell-based framework for digital twins to prioritize disease genes and drug targets	33
GenTB: A user-friendly genome-based predictor for tuberculosis resistance powered by machine learning	33
Meta-analysis identifies common gut microbiota associated with multiple sclerosis	33
Post-vaccine epidemiology of serotype 3 pneumococci identifies transformation inhibition through prophage-driven alteration of a non-coding RNA	33
Metronidazole response profiles of Gardnerella species are congruent with phylogenetic and comparative genomic analyses	32
Evaluating the use of paralogous protein domains to increase data availability for missense variant classification	32
Spatiotemporal single-cell analysis elucidates the cellular and molecular dynamics of human cornea aging	31
Distinct pathways for genetic and epigenetic predisposition in familial and bilateral Wilms tumor	31
ACT-Discover: identifying karyotype heterogeneity in pancreatic cancer evolution using ctDNA	31
Smoking-associated gene expression alterations in nasal epithelium reveal immune impairment linked to lung cancer risk	31
The case for including proteomics in routine diagnostic practice for rare disease	31
The emergence of highly resistant and hypervirulent Klebsiella pneumoniae CC14 clone in a tertiary hospital over 8 years	31
Long-term persistence of diverse clones shapes the transmission landscape of invasive Listeria monocytogenes	31
Distinct pathway-based effects of blood pressure and body mass index on cardiovascular traits: comparison of novel Mendelian randomization approaches	30
Meiotic and mitotic aneuploidies drive arrest of in vitro fertilized human preimplantation embryos	30
spSeudoMap: cell type mapping of spatial transcriptomics using unmatched single-cell RNA-seq data	30
An 8-gene machine learning model improves clinical prediction of severe dengue progression	30
Interaction of bacterial genera associated with therapeutic response to immune checkpoint PD-1 blockade in a United States cohort	30
Ganciclovir-induced mutations are present in a diverse spectrum of post-transplant malignancies	30
A new method for detecting mixed Mycobacterium tuberculosis infection and reconstructing constituent strains provides insights into transmission	30
Functional pre-therapeutic evaluation by genome editing of variants of uncertain significance of essential tumor suppressor genes	30
Location and condition based reconstruction of colon cancer microbiome from human RNA sequencing data	29
Integrative analysis of spatial and single-cell transcriptome data from human pancreatic cancer reveals an intermediate cancer cell population associated with poor prognosis	29
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	29
Accumulation of copy number alterations and clinical progression across advanced prostate cancer	29
Cardiomyopathies in 100,000 genomes project: interval evaluation improves diagnostic yield and informs strategies for ongoing gene discovery	29
Intratumor heterogeneity and T cell exhaustion in primary CNS lymphoma	29
Spatial transcriptomics analysis of neoadjuvant cabozantinib and nivolumab in advanced hepatocellular carcinoma identifies independent mechanisms of resistance and recurrence	28
Using multi-scale genomics to associate poorly annotated genes with rare diseases	28
Lethal variants in humans: lessons learned from a large molecular autopsy cohort	27
A proteomics analysis of 5xFAD mouse brain regions reveals the lysosome-associated protein Arl8b as a candidate biomarker for Alzheimer’s disease	27
Non-coding cis-regulatory variants in HK1 cause congenital hyperinsulinism with variable disease severity	27
A transcriptome-wide association study of Alzheimer’s disease using prediction models of relevant tissues identifies novel candidate susceptibility genes	27
An expedited screening platform for the discovery of anti-ageing compounds in vitro and in vivo	27
Gut microbiota predicts body fat change following a low-energy diet: a PREVIEW intervention study	27
Single-cell profiling of response to neoadjuvant chemo-immunotherapy in surgically resectable esophageal squamous cell carcinoma	26
SvAnna: efficient and accurate pathogenicity prediction of coding and regulatory structural variants in long-read genome sequencing	26
A genome-based survey of invasive pneumococci in Norway over four decades reveals lineage-specific responses to vaccination	26
RNA profiling of blood platelets noninvasively differentiates colorectal cancer from healthy donors and noncancerous intestinal diseases: a retrospective cohort study	26
Molecular characteristics of breast tumors in patients screened for germline predisposition from a population-based observational study	26
Genome-wide identification and characterization of circular RNA m6A modification in pancreatic cancer	26
Defining type 2 diabetes polygenic risk scores through colocalization and network-based clustering of metabolic trait genetic associations	26
Molecular-guided therapy for the treatment of patients with relapsed and refractory childhood cancers: a Beat Childhood Cancer Research Consortium trial	26
SARS-CoV-2 population dynamics in immunocompetent individuals in a closed transmission chain shows genomic diversity over the course of infection	26
Penetrance estimation of Alzheimer disease in SORL1 loss-of-function variant carriers using a family-based strategy and stratification by APOE genotypes	25
Identification of TBX15 as an adipose master trans regulator of abdominal obesity genes	25
De novo transcriptomic subtyping of colorectal cancer liver metastases in the context of tumor heterogeneity	25
Keeping up with the pathogens: improved antimicrobial resistance detection and prediction from Pseudomonas aeruginosa genomes	25
Variation in targetable genomic alterations in non-small cell lung cancer by genetic ancestry, sex, smoking history, and histology	24
Genome Tunisia Project: paving the way for precision medicine in North Africa	24
Therapy sculpts the complex interplay between cancer and the immune system during tumour evolution	24
The clinical utility of rapid exome sequencing in a consanguineous population	24
Microbiota of the prostate tumor environment investigated by whole-transcriptome profiling	24
Single-cell profiling of human dura and meningioma reveals cellular meningeal landscape and insights into meningioma immune response	24
Mutation-Attention (MuAt): deep representation learning of somatic mutations for tumour typing and subtyping	24
Clinical implementation of RNA sequencing for Mendelian disease diagnostics	24
Predicting MHC-I ligands across alleles and species: how far can we go?	23

Ten-year longitudinal molecular epidemiology study of Escherichia coli and Klebsiella species bloodstream infections in Oxfordshire, UK	23
Correction: FOXC1-mediated LINC00301 facilitates tumor progression and triggers an immune-suppressing microenvironment in non-small cell lung cancer by regulating the HIF1α pathway	23
Impact of genetic risk and lifestyles on cardiovascular disease-free and total life expectancy: a cohort study	23
mRNA-based precision targeting of neoantigens and tumor-associated antigens in malignant brain tumors	23
Correction to: Genome-wide sequencing as a first-tier screening test for short tandem repeat expansions	23
CRAG: de novo characterization of cell-free DNA fragmentation hotspots in plasma whole-genome sequencing	23
Race-specific coregulatory and transcriptomic profiles associated with DNA methylation and androgen receptor in prostate cancer	23
Identifying latent genetic interactions in genome-wide association studies using multiple traits	22
A novel transcriptional signature identifies T-cell infiltration in high-risk paediatric cancer	22
Gut microbial determinants of clinically important improvement in patients with rheumatoid arthritis	22
Cell-type-specific subtyping of epigenomes improves prognostic stratification of cancer	22
Patient-focused pathogen genetic counselling—has the time come?	22
Multi-omics colocalization with genome-wide association studies reveals a context-specific genetic mechanism at a childhood onset asthma risk locus	22
KleTy: integrated typing scheme for core genome and plasmids reveals repeated emergence of multi-drug resistant epidemic lineages in Klebsiella worldwide	22
Discovering novel germline genetic variants linked to severe fluoropyrimidine-related toxicity in- and outside DPYD	22
Clinical and genomic features of Mycobacterium avium complex: a multi-national European study	21
The genetic case for cardiorespiratory fitness as a clinical vital sign and the routine prescription of physical activity in healthcare	21
Intra-patient stability of tumor mutational burden from tissue biopsies at different time points in advanced cancers	21
Illuminating links between cis-regulators and trans-acting variants in the human prefrontal cortex	21
Predicting the presence of coronary plaques featuring high-risk characteristics using polygenic risk scores and targeted proteomics in patients with suspected coronary artery disease	20
Rare copy-number variants as modulators of common disease susceptibility	20
Integrating single-cell sequencing data with GWAS summary statistics reveals CD16+monocytes and memory CD8+T cells involved in severe COVID-19	20
Single-cell genomic and transcriptomic landscapes of primary and metastatic colorectal cancer tumors	20
Genome-wide prediction of pathogenic gain- and loss-of-function variants from ensemble learning of a diverse feature set	20
Diagnostic yield of genetic screening in a diverse, community-ascertained cohort	20
The genetics and epidemiology of N- and O-immunoglobulin A glycomics	19
Rare subclonal sequencing of breast cancers indicates putative metastatic driver mutations are predominately acquired after dissemination	19
Systematic analysis of Mendelian disease-associated gene variants reveals new classes of cancer-predisposing genes	19
The CXCL16/CXCR6 axis is linked to immune effector cell-associated neurotoxicity in chimeric antigen receptor (CAR) T cell therapy	19
Automated prioritization of sick newborns for whole genome sequencing using clinical natural language processing and machine learning	19
Spatiotemporal evolution of the clear cell renal cell carcinoma microenvironment links intra-tumoral heterogeneity to immune escape	19
Single-cell exome sequencing reveals multiple subclones in metastatic colorectal carcinoma	19
Inter-species geographic signatures for tracing horizontal gene transfer and long-term persistence of carbapenem resistance	19
Developmental dynamics of voltage-gated sodium channel isoform expression in the human and mouse brain	19
The gut microbiota in multiple sclerosis varies with disease activity	18
Single-cell transcriptomics reveals common epithelial response patterns in human acute kidney injury	18
Correction: Rapid molecular diagnostics of tuberculosis resistance by targeted stool sequencing	18
Early detection of hepatocellular carcinoma via no end-repair enzymatic methylation sequencing of cell-free DNA and pre-trained neural network	18
Bi-allelic variants in BRF2 are associated with perinatal death and craniofacial anomalies	18
Prostate cancers with distinct transcriptional programs in Black and White men	18
Somatic mutational profiles and germline polygenic risk scores in human cancer	18
CTpathway: a CrossTalk-based pathway enrichment analysis method for cancer research	17
Spatially resolved transcriptomic profiles reveal unique defining molecular features of infiltrative 5ALA-metabolizing cells associated with glioblastoma recurrence	17
Genomic surveillance of multidrug-resistant organisms based on long-read sequencing	17
Mechanistic insights into the interactions between cancer drivers and the tumour immune microenvironment	17
An atlas of cell-type-specific interactome networks across 44 human tumor types	17
Utilizing genomics to identify novel immunotherapeutic targets in multiple myeloma high-risk subgroups	17
Tumor microenvironment remodeling after neoadjuvant immunotherapy in non-small cell lung cancer revealed by single-cell RNA sequencing	16
Single-cell analysis of immune and stroma cell remodeling in clear cell renal cell carcinoma primary tumors and bone metastatic lesions	16
Preventing disease progression in multiple sclerosis—insights from large real-world cohorts	16
Genomic architecture of autism spectrum disorder in Qatar: The BARAKA-Qatar Study	16
RNA polymerase I is essential for driving the formation of 3D genome in early embryonic development in mouse, but not in human	16
Molecular profiling of human non-small cell lung cancer by single-cell RNA-seq	16
Sequencing individual genomes with recurrent genomic disorder deletions: an approach to characterize genes for autosomal recessive rare disease traits	16
PhenoDP: leveraging deep learning for phenotype-based case reporting, disease ranking, and symptom recommendation	16
Development and validation of a trans-ancestry polygenic risk score for type 2 diabetes in diverse populations	16
Unsupervised spatially embedded deep representation of spatial transcriptomics	16
Transcriptional signals of transformation in human cancer	16
Comprehensive de novo mutation discovery with HiFi long-read sequencing	15
A single-cell atlas of Schwannoma across genetic backgrounds and anatomic locations	15
Adipose methylome integrative-omic analyses reveal genetic and dietary metabolic health drivers and insulin resistance classifiers	15
Structural variants linked to Alzheimer’s disease and other common age-related clinical and neuropathologic traits	15
The genomic architecture of EBV and infected gastric tissue from precursor lesions to carcinoma	15
scDrugPrio: a framework for the analysis of single-cell transcriptomics to address multiple problems in precision medicine in immune-mediated inflammatory diseases	15
Pre-operative clonal hematopoiesis is related to adverse outcome in lung cancer after adjuvant therapy	15
Associations between HLA-II variation and antibody specificity are predicted by antigen properties	15
Long-read sequencing identifies copy-specific markers of SMN gene conversion in spinal muscular atrophy	15
Structural variant allelic heterogeneity in MECP2 duplication syndrome provides insight into clinical severity and variability of disease expression	15
Spatial transcriptomic analysis of Sonic hedgehog medulloblastoma identifies that the loss of heterogeneity and promotion of differentiation underlies the response to CDK4/6 inhibition	15
Gain and loss of TASK3 channel function and its regulation by novel variation cause KCNK9 imprinting syndrome	15
High level of complexity and global diversity of the 3q29 locus revealed by optical mapping and long-read sequencing	15
STRchive: a dynamic resource detailing population-level and locus-specific insights at tandem repeat disease loci	15
Combining chromosome conformation capture and exome sequencing for simultaneous detection of structural and single-nucleotide variants	14
A tool for CRISPR-Cas9 sgRNA evaluation based on computational models of gene expression	14
Insertion sequences accelerate genomic convergence of multidrug resistance and hypervirulence in Klebsiella pneumoniae via capsular phase variation	14
Phylogenomic insights into evolutionary trajectories of multidrug resistant S. pneumoniae CC271 over a period of 14 years in China	14
Reanalysis of exome negative patients with rare disease: a pragmatic workflow for diagnostic applications	14
Integrated analyses of multi-omic data derived from paired primary lung cancer and brain metastasis reveal the metabolic vulnerability as a novel therapeutic target	13
Genetic constraint at single amino acid resolution in protein domains improves missense variant prioritisation and gene discovery	13
Epigenetic timing effects on child developmental outcomes: a longitudinal meta-regression of findings from the Pregnancy And Childhood Epigenetics Consortium	13
Quantitative thresholds for variant enrichment in 13,845 cases: improving pathogenicity classification in genetic hearing loss	13
Systematic analysis of genetic and phenotypic characteristics reveals antisense oligonucleotide therapy potential for one-third of neurodevelopmental disorders	13
Epigenome-wide association studies identify novel DNA methylation sites associated with PTSD: a meta-analysis of 23 military and civilian cohorts	12
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	12
Joint inference of mutational signatures from indels and single-nucleotide substitutions reveals prognostic impact of DNA repair deficiencies	12
Multi-scale characterisation of homologous recombination deficiency in breast cancer	12
Whole genome sequencing of 378 prostate cancer metastases reveals tissue selectivity for mismatch deficiency with potential therapeutic implications	12
Developmental-status-aware transcriptional decomposition establishes a cell state panorama of human cancers	12
Crohn’s disease in endoscopic remission, obesity, and cases of high genetic risk demonstrate overlapping shifts in the colonic mucosal-luminal interface microbiome	12
Genome-wide interrogation of structural variation reveals novel African-specific prostate cancer oncogenic drivers	12
Longitudinal multi-omics analysis identifies early blood-based predictors of anti-TNF therapy response in inflammatory bowel disease	12
Genome-wide sequencing as a first-tier screening test for short tandem repeat expansions	12
Rare damaging CCR2 variants are associated with lower lifetime cardiovascular risk	12
Multivariate GWAS of Alzheimer’s disease CSF biomarker profiles implies GRIN2D in synaptic functioning	12
Colorectal cancer microbiome programs DNA methylation of host cells by affecting methyl donor metabolism	11