Genome Medicine

Article	Citations
Beyond the exome: utility of long-read whole genome sequencing in exome-negative autosomal recessive diseases	573
Curating genomic disease-gene relationships with Gene2Phenotype (G2P)	242
Loss of p53-DREAM-mediated repression of cell cycle genes as a driver of lymph node metastasis in head and neck cancer	200
Neutrophil extracellular traps have auto-catabolic activity and produce mononucleosome-associated circulating DNA	192
Leveraging new methods for comprehensive characterization of mitochondrial DNA in esophageal squamous cell carcinoma	187
Correction: Intricate interplay of CRISPR-Cas systems, anti-CRISPR proteins, and antimicrobial resistance genes in a globally successful multi-drug resistant Klebsiella pneumoniae clone	181
Pervasiveness of HLA allele-specific expression loss across tumor types	166
Genome-aware annotation of CRISPR guides validates targets in variant cell lines and enhances discovery in screens	164
The role of admixture in the rare variant contribution to inflammatory bowel disease	139
Single-molecule methylation profiles of cell-free DNA in cancer with nanopore sequencing	124
Integrative epigenomic and high-throughput functional enhancer profiling reveals determinants of enhancer heterogeneity in gastric cancer	114
Ethnic variations in metabolic syndrome components and their associations with the gut microbiota: the HELIUS study	112
The vaginal microbiota and innate immunity after local excisional treatment for cervical intraepithelial neoplasia	112
Spatial intra-tumour heterogeneity and treatment-induced genomic evolution in oesophageal adenocarcinoma: implications for prognosis and therapy	106
DNA demethylation triggers cell free DNA release in colorectal cancer cells	101
Publisher Correction: Analysis of transcriptomic features reveals molecular endotypes of SLE with clinical implications	96
INSaFLU-TELEVIR: an open web-based bioinformatics suite for viral metagenomic detection and routine genomic surveillance	80
The lung microbiome, peripheral gene expression, and recurrence-free survival after resection of stage II non-small cell lung cancer	80
The landcape of Helicobacter pylori-mediated DNA breaks links bacterial genotoxicity to its oncogenic potential	78
De novo identification of expressed cancer somatic mutations from single-cell RNA sequencing data	77
Shared genetic architecture between irritable bowel syndrome and psychiatric disorders reveals molecular pathways of the gut-brain axis	75
Contribution of rare coding variants to microcephaly in individuals with neurodevelopmental disorders	72
Glioblastoma-instructed microglia transition to heterogeneous phenotypic states with phagocytic and dendritic cell-like features in patient tumors and patient-derived orthotopic xenografts	72
Replication-associated mechanisms contribute to an increased CpG > TpG mutation burden in mismatch repair-deficient cancers	70
The multiple de novo copy number variant (MdnCNV) phenomenon presents with peri-zygotic DNA mutational signatures and multilocus pathogenic variation	69

Large-scale discovery of novel neurodevelopmental disorder-related genes through a unified analysis of single-nucleotide and copy number variants	67
Adult genomic medicine: lessons from a multisite study of 2700 patients	67
Universal clinical Parkinson’s disease axes identify a major influence of neuroinflammation	66
Tracing carriage, acquisition, and transmission of ESBL-producing Escherichia coli over two years in a tertiary care hospital	65
Single-nucleus RNA sequencing of human pancreatic islets identifies novel gene sets and distinguishes β-cell subpopulations with dynamic transcriptome profiles	64
Diversity in EWAS: current state, challenges, and solutions	64
Genomic and transcriptomic features between primary and paired metastatic fumarate hydratase–deficient renal cell carcinoma	63
Metabolome-wide Mendelian randomization for age at menarche and age at natural menopause	61
Correction: Genome Med 15, 115 & Genome Med 16, 3	61
Biological basis of extensive pleiotropy between blood traits and cancer risk	60
Integrated genomic analyses of acral and mucosal melanomas nominate novel driver genes	57
Longitudinal analysis of genetic and environmental interplay in human metabolic profiles and the implication for metabolic health	55
Neutralization sensitivity, fusogenicity, and infectivity of Omicron subvariants	55
Comprehensive pathogen identification and antimicrobial resistance prediction from positive blood cultures using nanopore sequencing technology	54
Comprehensive multi-omics integration identifies differentially active enhancers during human brain development with clinical relevance	54
Skeletal muscle regeneration failure in ischemic-damaged limbs is associated with pro-inflammatory macrophages and premature differentiation of satellite cells	52
The effects of the Green-Mediterranean diet on cardiometabolic health are linked to gut microbiome modifications: a randomized controlled trial	52
Single-cell transcriptomics reveals a mechanosensitive injury signaling pathway in early diabetic nephropathy	51
Full-spectral genome analysis of natural killer/T cell lymphoma highlights impacts of genome instability in driving its progression	50
Rapid whole genome sequencing of critically ill pediatric patients from genetically underrepresented populations	49
ClinVar and HGMD genomic variant classification accuracy has improved over time, as measured by implied disease burden	49
Multi-label transcriptional classification of colorectal cancer reflects tumor cell population heterogeneity	49
The WID-CIN test identifies women with, and at risk of, cervical intraepithelial neoplasia grade 3 and invasive cervical cancer	48
Applications of long-read sequencing to Mendelian genetics	47
TP53 germline testing and hereditary cancer: how somatic events and clinical criteria affect variant detection rate	46
Epigenomic preconditioning of peripheral monocytes determines their transcriptional response to the tumor microenvironment	46
Acetyl-CoA metabolism drives epigenome change and contributes to carcinogenesis risk in fatty liver disease	46
High fluoroquinolone resistance proportions among multidrug-resistant tuberculosis driven by dominant L2 Mycobacterium tuberculosis clones in the Mumbai Metropolitan Region	46
Single-cell multimodal analysis identifies common regulatory programs in synovial fibroblasts of rheumatoid arthritis patients and modeled TNF-driven arthritis	45
The telomere maintenance mechanism spectrum and its dynamics in gliomas	45
Single-cell transcriptomic analysis reveals tumor cell heterogeneity and immune microenvironment features of pituitary neuroendocrine tumors	45
DNA methylation memory of pancreatic acinar-ductal metaplasia transition state altering Kras-downstream PI3K and Rho GTPase signaling in the absence of Kras mutation	45
A small number of early introductions seeded widespread transmission of SARS-CoV-2 in Québec, Canada	44
Optimized high-throughput whole-genome sequencing workflow for surveillance of influenza A virus	44
A novel molecular signature identifies mixed subtypes in renal cell carcinoma with poor prognosis and independent response to immunotherapy	44
Integrated study of systemic and local airway transcriptomes in asthma reveals causal mediation of systemic effects by airway key drivers	43
Refining epigenetic prediction of chronological and biological age	43
Correction: Acetyl-CoA metabolism drives epigenome change and contributes to carcinogenesis risk in fatty liver disease	43
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	43
Cell type-specific changes identified by single-cell transcriptomics in Alzheimer’s disease	42
T cell receptor beta germline variability is revealed by inference from repertoire data	42
Large-scale copy number alterations are enriched for synthetic viability in BRCA1/BRCA2 tumors	42
The TyphiNET data visualisation dashboard: unlocking Salmonella Typhi genomics data to support public health	42
Transcriptional immunogenomic analysis reveals distinct immunological clusters in paediatric nervous system tumours	41
A robust deep learning workflow to predict CD8 + T-cell epitopes	41
Applicability of epigenetic age models to next-generation methylation arrays	41
Clonal evolution in primary breast cancers under sequential epirubicin and docetaxel monotherapy	40
Integrating metabolomics and proteomics to identify novel drug targets for heart failure and atrial fibrillation	39
Influence network model uncovers relations between biological processes and mutational signatures	39
Multiscale heterogeneity in gastric adenocarcinoma evolution is an obstacle to precision medicine	39

Neutralising reactivity against SARS-CoV-2 Delta and Omicron variants by vaccination and infection history	39
MorphoITH: a framework for deconvolving intra-tumor heterogeneity using tissue morphology	39
Identification of novel protein biomarkers and drug targets for colorectal cancer by integrating human plasma proteome with genome	39
SARS-CoV-2 infection induces a long-lived pro-inflammatory transcriptional profile	38
Addressing the routine failure to clinically identify monogenic cases of common disease	38
Prioritizing genes associated with brain disorders by leveraging enhancer-promoter interactions in diverse neural cells and tissues	38
imply: improving cell-type deconvolution accuracy using personalized reference profiles	37
EMB is essential for enteric nervous system development mediated by PI3K signaling	37
NODAL variants are associated with a continuum of laterality defects from simple D-transposition of the great arteries to heterotaxy	36
Microglial heterogeneity in the ischemic stroke mouse brain of both sexes	36
Identification of diagnostic candidates in Mendelian disorders using an RNA sequencing-centric approach	36
Plasma microRNA signatures of aging and their links to health outcomes and mortality: findings from a population-based cohort study	36
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	35
STModule: identifying tissue modules to uncover spatial components and characteristics of transcriptomic landscapes	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
Germline HLA-B evolutionary divergence influences the efficacy of immune checkpoint blockade therapy in gastrointestinal cancer	34
Meta-analysis identifies common gut microbiota associated with multiple sclerosis	34
Knockout mice with pituitary malformations help identify human cases of hypopituitarism	34
Antiprogestins reduce epigenetic field cancerization in breast tissue of young healthy women	34
Post-vaccine epidemiology of serotype 3 pneumococci identifies transformation inhibition through prophage-driven alteration of a non-coding RNA	34
Evaluating genome sequencing strategies: trio, singleton, and standard testing in rare disease diagnosis	34
Identification of a cytokine-dominated immunosuppressive class in squamous cell lung carcinoma with implications for immunotherapy resistance	34
The role of genetic testing in diagnosis and care of inherited cardiac conditions in a specialised multidisciplinary clinic	33
ENU-based dominant genetic screen identifies contractile and neuronal gene mutations in congenital heart disease	33
Return of non-ACMG recommended incidental genetic findings to pediatric patients: considerations and opportunities from experiences in genomic sequencing	33
Identification of specific susceptibility loci for the early-onset colorectal cancer	33
A dynamic single cell-based framework for digital twins to prioritize disease genes and drug targets	33
Evaluating the use of paralogous protein domains to increase data availability for missense variant classification	32
Genome sequencing as a generic diagnostic strategy for rare disease	32
Long-term persistence of diverse clones shapes the transmission landscape of invasive Listeria monocytogenes	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
Interaction of bacterial genera associated with therapeutic response to immune checkpoint PD-1 blockade in a United States cohort	31
A new method for detecting mixed Mycobacterium tuberculosis infection and reconstructing constituent strains provides insights into transmission	31
ACT-Discover: identifying karyotype heterogeneity in pancreatic cancer evolution using ctDNA	31
Metronidazole response profiles of Gardnerella species are congruent with phylogenetic and comparative genomic analyses	31
Meiotic and mitotic aneuploidies drive arrest of in vitro fertilized human preimplantation embryos	31
Distinct pathways for genetic and epigenetic predisposition in familial and bilateral Wilms tumor	30
Distinct pathway-based effects of blood pressure and body mass index on cardiovascular traits: comparison of novel Mendelian randomization approaches	30
Smoking-associated gene expression alterations in nasal epithelium reveal immune impairment linked to lung cancer risk	30
Spatiotemporal single-cell analysis elucidates the cellular and molecular dynamics of human cornea aging	30
Using multi-scale genomics to associate poorly annotated genes with rare diseases	29
Accumulation of copy number alterations and clinical progression across advanced prostate cancer	29
An 8-gene machine learning model improves clinical prediction of severe dengue progression	29
Location and condition based reconstruction of colon cancer microbiome from human RNA sequencing data	29
spSeudoMap: cell type mapping of spatial transcriptomics using unmatched single-cell RNA-seq data	28
Intratumor heterogeneity and T cell exhaustion in primary CNS lymphoma	28
A proteomics analysis of 5xFAD mouse brain regions reveals the lysosome-associated protein Arl8b as a candidate biomarker for Alzheimer’s disease	28
Spatial transcriptomics analysis of neoadjuvant cabozantinib and nivolumab in advanced hepatocellular carcinoma identifies independent mechanisms of resistance and recurrence	28
Cardiomyopathies in 100,000 genomes project: interval evaluation improves diagnostic yield and informs strategies for ongoing gene discovery	27
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	27
Integrative analysis of spatial and single-cell transcriptome data from human pancreatic cancer reveals an intermediate cancer cell population associated with poor prognosis	27
Functional pre-therapeutic evaluation by genome editing of variants of uncertain significance of essential tumor suppressor genes	27
Ganciclovir-induced mutations are present in a diverse spectrum of post-transplant malignancies	27
Personalized transcriptional network analysis links age-related loss of gene coordination to individual biological aging	27
SvAnna: efficient and accurate pathogenicity prediction of coding and regulatory structural variants in long-read genome sequencing	26
Molecular-guided therapy for the treatment of patients with relapsed and refractory childhood cancers: a Beat Childhood Cancer Research Consortium trial	26
A genome-based survey of invasive pneumococci in Norway over four decades reveals lineage-specific responses to vaccination	26
Gut microbiota predicts body fat change following a low-energy diet: a PREVIEW intervention study	26
Molecular characteristics of breast tumors in patients screened for germline predisposition from a population-based observational study	26
An expedited screening platform for the discovery of anti-ageing compounds in vitro and in vivo	26
SARS-CoV-2 population dynamics in immunocompetent individuals in a closed transmission chain shows genomic diversity over the course of infection	26
Microbiota of the prostate tumor environment investigated by whole-transcriptome profiling	26
Therapy sculpts the complex interplay between cancer and the immune system during tumour evolution	26
Genome-wide identification and characterization of circular RNA m6A modification in pancreatic cancer	25
RNA profiling of blood platelets noninvasively differentiates colorectal cancer from healthy donors and noncancerous intestinal diseases: a retrospective cohort study	25
Clinical implementation of RNA sequencing for Mendelian disease diagnostics	25
Non-coding cis-regulatory variants in HK1 cause congenital hyperinsulinism with variable disease severity	25
Building digital histology models of transcriptional tumor programs with generative deep learning for pathology-based precision medicine	24
Defining type 2 diabetes polygenic risk scores through colocalization and network-based clustering of metabolic trait genetic associations	24
Single-cell profiling of response to neoadjuvant chemo-immunotherapy in surgically resectable esophageal squamous cell carcinoma	24
Lethal variants in humans: lessons learned from a large molecular autopsy cohort	24
Genome Tunisia Project: paving the way for precision medicine in North Africa	24
varCADD: large sets of standing genetic variation enable genome-wide pathogenicity prediction	24
Keeping up with the pathogens: improved antimicrobial resistance detection and prediction from Pseudomonas aeruginosa genomes	24
Penetrance estimation of Alzheimer disease in SORL1 loss-of-function variant carriers using a family-based strategy and stratification by APOE genotypes	24
Race-specific coregulatory and transcriptomic profiles associated with DNA methylation and androgen receptor in prostate cancer	23
Mutation-Attention (MuAt): deep representation learning of somatic mutations for tumour typing and subtyping	23

The clinical utility of rapid exome sequencing in a consanguineous population	23
Impact of genetic risk and lifestyles on cardiovascular disease-free and total life expectancy: a cohort study	23
Single-cell profiling of human dura and meningioma reveals cellular meningeal landscape and insights into meningioma immune response	23
CRAG: de novo characterization of cell-free DNA fragmentation hotspots in plasma whole-genome sequencing	23
Variation in targetable genomic alterations in non-small cell lung cancer by genetic ancestry, sex, smoking history, and histology	22
Patient-focused pathogen genetic counselling—has the time come?	22
Effect of clonal hematopoiesis on plaque morphology and prognosis in patients with acute myocardial infarction	22
mRNA-based precision targeting of neoantigens and tumor-associated antigens in malignant brain tumors	22
Predicting MHC-I ligands across alleles and species: how far can we go?	22
KleTy: integrated typing scheme for core genome and plasmids reveals repeated emergence of multi-drug resistant epidemic lineages in Klebsiella worldwide	21
Diagnostic yield of genetic screening in a diverse, community-ascertained cohort	21
Spatiotemporal evolution of the clear cell renal cell carcinoma microenvironment links intra-tumoral heterogeneity to immune escape	21
Correction: FOXC1-mediated LINC00301 facilitates tumor progression and triggers an immune-suppressing microenvironment in non-small cell lung cancer by regulating the HIF1α pathway	21
Single-cell genomic and transcriptomic landscapes of primary and metastatic colorectal cancer tumors	21
Identifying latent genetic interactions in genome-wide association studies using multiple traits	21
Clinical and genomic features of Mycobacterium avium complex: a multi-national European study	21
Discovering novel germline genetic variants linked to severe fluoropyrimidine-related toxicity in- and outside DPYD	21
Rare copy-number variants as modulators of common disease susceptibility	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
Illuminating links between cis-regulators and trans-acting variants in the human prefrontal cortex	20
A novel transcriptional signature identifies T-cell infiltration in high-risk paediatric cancer	19
Multi-omics colocalization with genome-wide association studies reveals a context-specific genetic mechanism at a childhood onset asthma risk locus	19
The genetic case for cardiorespiratory fitness as a clinical vital sign and the routine prescription of physical activity in healthcare	19
Integrating single-cell sequencing data with GWAS summary statistics reveals CD16+monocytes and memory CD8+T cells involved in severe COVID-19	19
Cell-type-specific subtyping of epigenomes improves prognostic stratification of cancer	19
Intra-patient stability of tumor mutational burden from tissue biopsies at different time points in advanced cancers	18
Systematic analysis of Mendelian disease-associated gene variants reveals new classes of cancer-predisposing genes	18
The genetics and epidemiology of N- and O-immunoglobulin A glycomics	18
Rare subclonal sequencing of breast cancers indicates putative metastatic driver mutations are predominately acquired after dissemination	18
Genome-wide prediction of pathogenic gain- and loss-of-function variants from ensemble learning of a diverse feature set	18
Inter-species geographic signatures for tracing horizontal gene transfer and long-term persistence of carbapenem resistance	18
The CXCL16/CXCR6 axis is linked to immune effector cell-associated neurotoxicity in chimeric antigen receptor (CAR) T cell therapy	18
Single-cell transcriptomics reveals common epithelial response patterns in human acute kidney injury	17
Prostate cancers with distinct transcriptional programs in Black and White men	17
CTpathway: a CrossTalk-based pathway enrichment analysis method for cancer research	17
Utilizing genomics to identify novel immunotherapeutic targets in multiple myeloma high-risk subgroups	17
Automated prioritization of sick newborns for whole genome sequencing using clinical natural language processing and machine learning	17
RNA polymerase I is essential for driving the formation of 3D genome in early embryonic development in mouse, but not in human	17
Genomic surveillance of multidrug-resistant organisms based on long-read sequencing	17
Somatic mutational profiles and germline polygenic risk scores in human cancer	17
Early detection of hepatocellular carcinoma via no end-repair enzymatic methylation sequencing of cell-free DNA and pre-trained neural network	17
The gut microbiota in multiple sclerosis varies with disease activity	17
Genomic architecture of autism spectrum disorder in Qatar: The BARAKA-Qatar Study	17
Mechanistic insights into the interactions between cancer drivers and the tumour immune microenvironment	17
Development and validation of a trans-ancestry polygenic risk score for type 2 diabetes in diverse populations	16
Molecular profiling of human non-small cell lung cancer by single-cell RNA-seq	16
Single-cell analysis of immune and stroma cell remodeling in clear cell renal cell carcinoma primary tumors and bone metastatic lesions	16
PhenoDP: leveraging deep learning for phenotype-based case reporting, disease ranking, and symptom recommendation	16
Bi-allelic variants in BRF2 are associated with perinatal death and craniofacial anomalies	16
Correction: Rapid molecular diagnostics of tuberculosis resistance by targeted stool sequencing	16
Tumor microenvironment remodeling after neoadjuvant immunotherapy in non-small cell lung cancer revealed by single-cell RNA sequencing	16
Spatially resolved transcriptomic profiles reveal unique defining molecular features of infiltrative 5ALA-metabolizing cells associated with glioblastoma recurrence	16
An atlas of cell-type-specific interactome networks across 44 human tumor types	16
Preventing disease progression in multiple sclerosis—insights from large real-world cohorts	15
High level of complexity and global diversity of the 3q29 locus revealed by optical mapping and long-read sequencing	15
Structural variant allelic heterogeneity in MECP2 duplication syndrome provides insight into clinical severity and variability of disease expression	15
Correction: Single-nucleus transcriptomics reveals a distinct microglial state and increased MSR1-mediated phagocytosis as common features across dementia subtypes	15
Sequencing individual genomes with recurrent genomic disorder deletions: an approach to characterize genes for autosomal recessive rare disease traits	15
Long-read sequencing identifies copy-specific markers of SMN gene conversion in spinal muscular atrophy	15
Gain and loss of TASK3 channel function and its regulation by novel variation cause KCNK9 imprinting syndrome	15
Unsupervised spatially embedded deep representation of spatial transcriptomics	15
Transcriptional signals of transformation in human cancer	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
Associations between HLA-II variation and antibody specificity are predicted by antigen properties	15
Structural variants linked to Alzheimer’s disease and other common age-related clinical and neuropathologic traits	14
Comprehensive de novo mutation discovery with HiFi long-read sequencing	14
Epigenetic timing effects on child developmental outcomes: a longitudinal meta-regression of findings from the Pregnancy And Childhood Epigenetics Consortium	14
Phylogenomic insights into evolutionary trajectories of multidrug resistant S. pneumoniae CC271 over a period of 14 years in China	14
Pre-operative clonal hematopoiesis is related to adverse outcome in lung cancer after adjuvant therapy	14
Adipose methylome integrative-omic analyses reveal genetic and dietary metabolic health drivers and insulin resistance classifiers	14
scDrugPrio: a framework for the analysis of single-cell transcriptomics to address multiple problems in precision medicine in immune-mediated inflammatory diseases	14
Microbiome-based prediction of allogeneic hematopoietic stem cell transplantation outcome	14
STRchive: a dynamic resource detailing population-level and locus-specific insights at tandem repeat disease loci	14
A single-cell atlas of Schwannoma across genetic backgrounds and anatomic locations	14
Longitudinal multi-omics analysis identifies early blood-based predictors of anti-TNF therapy response in inflammatory bowel disease	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
Insertion sequences accelerate genomic convergence of multidrug resistance and hypervirulence in Klebsiella pneumoniae via capsular phase variation	13
Systematic analysis of genetic and phenotypic characteristics reveals antisense oligonucleotide therapy potential for one-third of neurodevelopmental disorders	13
A tool for CRISPR-Cas9 sgRNA evaluation based on computational models of gene expression	13
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	13
Genetic constraint at single amino acid resolution in protein domains improves missense variant prioritisation and gene discovery	13
Quantitative thresholds for variant enrichment in 13,845 cases: improving pathogenicity classification in genetic hearing loss	12
Epigenome-wide association studies identify novel DNA methylation sites associated with PTSD: a meta-analysis of 23 military and civilian cohorts	12
Developmental-status-aware transcriptional decomposition establishes a cell state panorama of human cancers	12
Multi-scale characterisation of homologous recombination deficiency in breast cancer	12
Multivariate GWAS of Alzheimer’s disease CSF biomarker profiles implies GRIN2D in synaptic functioning	12
Combining chromosome conformation capture and exome sequencing for simultaneous detection of structural and single-nucleotide variants	12
Reanalysis of exome negative patients with rare disease: a pragmatic workflow for diagnostic applications	12
Whole genome sequencing of 378 prostate cancer metastases reveals tissue selectivity for mismatch deficiency with potential therapeutic implications	12
Joint inference of mutational signatures from indels and single-nucleotide substitutions reveals prognostic impact of DNA repair deficiencies	12
Long-term beneficial effect of faecal microbiota transplantation on colonisation of multidrug-resistant bacteria and resistome abundance in patients with recurrent Clostridioides difficile infection	12
Genome-wide interrogation of structural variation reveals novel African-specific prostate cancer oncogenic drivers	12
Clustering of predicted loss-of-function variants in genes linked with monogenic disease can explain incomplete penetrance	12
Sequence dependencies and mutation rates of localized mutational processes in cancer	12
Genome-scale CRISPR screens identify host factors that promote human coronavirus infection	12