Genome Medicine

Article	Citations
Genome-aware annotation of CRISPR guides validates targets in variant cell lines and enhances discovery in screens	603
Non-cancer-related pathogenic germline variants and expression consequences in ten-thousand cancer genomes	547
The role of admixture in the rare variant contribution to inflammatory bowel disease	230
Loss of p53-DREAM-mediated repression of cell cycle genes as a driver of lymph node metastasis in head and neck cancer	193
Pervasiveness of HLA allele-specific expression loss across tumor types	189
Correction: Intricate interplay of CRISPR-Cas systems, anti-CRISPR proteins, and antimicrobial resistance genes in a globally successful multi-drug resistant Klebsiella pneumoniae clone	178
Beyond the exome: utility of long-read whole genome sequencing in exome-negative autosomal recessive diseases	168
Neutrophil extracellular traps have auto-catabolic activity and produce mononucleosome-associated circulating DNA	156
Curating genomic disease-gene relationships with Gene2Phenotype (G2P)	152
Single-molecule methylation profiles of cell-free DNA in cancer with nanopore sequencing	137
Leveraging new methods for comprehensive characterization of mitochondrial DNA in esophageal squamous cell carcinoma	117
The landcape of Helicobacter pylori-mediated DNA breaks links bacterial genotoxicity to its oncogenic potential	111
Universal clinical Parkinson’s disease axes identify a major influence of neuroinflammation	111
Shared genetic architecture between irritable bowel syndrome and psychiatric disorders reveals molecular pathways of the gut-brain axis	111
De novo identification of expressed cancer somatic mutations from single-cell RNA sequencing data	101
Publisher Correction: Analysis of transcriptomic features reveals molecular endotypes of SLE with clinical implications	96
Integrative epigenomic and high-throughput functional enhancer profiling reveals determinants of enhancer heterogeneity in gastric cancer	94
Large-scale discovery of novel neurodevelopmental disorder-related genes through a unified analysis of single-nucleotide and copy number variants	86
Contribution of rare coding variants to microcephaly in individuals with neurodevelopmental disorders	78
Spatial intra-tumour heterogeneity and treatment-induced genomic evolution in oesophageal adenocarcinoma: implications for prognosis and therapy	78
INSaFLU-TELEVIR: an open web-based bioinformatics suite for viral metagenomic detection and routine genomic surveillance	75
Ethnic variations in metabolic syndrome components and their associations with the gut microbiota: the HELIUS study	75
The lung microbiome, peripheral gene expression, and recurrence-free survival after resection of stage II non-small cell lung cancer	73
DNA demethylation triggers cell free DNA release in colorectal cancer cells	70
The vaginal microbiota and innate immunity after local excisional treatment for cervical intraepithelial neoplasia	69

Glioblastoma-instructed microglia transition to heterogeneous phenotypic states with phagocytic and dendritic cell-like features in patient tumors and patient-derived orthotopic xenografts	65
The multiple de novo copy number variant (MdnCNV) phenomenon presents with peri-zygotic DNA mutational signatures and multilocus pathogenic variation	65
Replication-associated mechanisms contribute to an increased CpG > TpG mutation burden in mismatch repair-deficient cancers	65
Tracing carriage, acquisition, and transmission of ESBL-producing Escherichia coli over two years in a tertiary care hospital	64
Correction: Genome Med 15, 115 & Genome Med 16, 3	63
Single-cell transcriptomics reveals a mechanosensitive injury signaling pathway in early diabetic nephropathy	63
Full-spectral genome analysis of natural killer/T cell lymphoma highlights impacts of genome instability in driving its progression	63
Biological basis of extensive pleiotropy between blood traits and cancer risk	63
Comprehensive pathogen identification and antimicrobial resistance prediction from positive blood cultures using nanopore sequencing technology	62
Neutralization sensitivity, fusogenicity, and infectivity of Omicron subvariants	60
ClinVar and HGMD genomic variant classification accuracy has improved over time, as measured by implied disease burden	60
Single-nucleus RNA sequencing of human pancreatic islets identifies novel gene sets and distinguishes β-cell subpopulations with dynamic transcriptome profiles	60
Integrated genomic analyses of acral and mucosal melanomas nominate novel driver genes	59
Comprehensive multi-omics integration identifies differentially active enhancers during human brain development with clinical relevance	58
Genomic and transcriptomic features between primary and paired metastatic fumarate hydratase–deficient renal cell carcinoma	57
Skeletal muscle regeneration failure in ischemic-damaged limbs is associated with pro-inflammatory macrophages and premature differentiation of satellite cells	54
Longitudinal analysis of genetic and environmental interplay in human metabolic profiles and the implication for metabolic health	53
Rapid whole genome sequencing of critically ill pediatric patients from genetically underrepresented populations	53
The effects of the Green-Mediterranean diet on cardiometabolic health are linked to gut microbiome modifications: a randomized controlled trial	51
Metabolome-wide Mendelian randomization for age at menarche and age at natural menopause	51
Diversity in EWAS: current state, challenges, and solutions	50
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
Epigenomic preconditioning of peripheral monocytes determines their transcriptional response to the tumor microenvironment	49
TP53 germline testing and hereditary cancer: how somatic events and clinical criteria affect variant detection rate	49
Applications of long-read sequencing to Mendelian genetics	48
The telomere maintenance mechanism spectrum and its dynamics in gliomas	48
A novel molecular signature identifies mixed subtypes in renal cell carcinoma with poor prognosis and independent response to immunotherapy	46
Single-cell transcriptomic analysis reveals tumor cell heterogeneity and immune microenvironment features of pituitary neuroendocrine tumors	46
Single-cell multimodal analysis identifies common regulatory programs in synovial fibroblasts of rheumatoid arthritis patients and modeled TNF-driven arthritis	45
A small number of early introductions seeded widespread transmission of SARS-CoV-2 in Québec, Canada	45
Multi-label transcriptional classification of colorectal cancer reflects tumor cell population heterogeneity	45
The WID-CIN test identifies women with, and at risk of, cervical intraepithelial neoplasia grade 3 and invasive cervical cancer	44
High fluoroquinolone resistance proportions among multidrug-resistant tuberculosis driven by dominant L2 Mycobacterium tuberculosis clones in the Mumbai Metropolitan Region	44
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
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
Large-scale copy number alterations are enriched for synthetic viability in BRCA1/BRCA2 tumors	41
Integrated study of systemic and local airway transcriptomes in asthma reveals causal mediation of systemic effects by airway key drivers	41
Neutralising reactivity against SARS-CoV-2 Delta and Omicron variants by vaccination and infection history	41
The TyphiNET data visualisation dashboard: unlocking Salmonella Typhi genomics data to support public health	41
A robust deep learning workflow to predict CD8 + T-cell epitopes	40
Transcriptional immunogenomic analysis reveals distinct immunological clusters in paediatric nervous system tumours	40
Clonal evolution in primary breast cancers under sequential epirubicin and docetaxel monotherapy	40
Multiscale heterogeneity in gastric adenocarcinoma evolution is an obstacle to precision medicine	39
Integrating metabolomics and proteomics to identify novel drug targets for heart failure and atrial fibrillation	39
Identification of novel protein biomarkers and drug targets for colorectal cancer by integrating human plasma proteome with genome	39
PLCG2 is associated with the inflammatory response and is induced by amyloid plaques in Alzheimer’s disease	39

T cell receptor beta germline variability is revealed by inference from repertoire data	39
Prioritizing genes associated with brain disorders by leveraging enhancer-promoter interactions in diverse neural cells and tissues	39
Applicability of epigenetic age models to next-generation methylation arrays	39
NODAL variants are associated with a continuum of laterality defects from simple D-transposition of the great arteries to heterotaxy	37
imply: improving cell-type deconvolution accuracy using personalized reference profiles	37
Plasma microRNA signatures of aging and their links to health outcomes and mortality: findings from a population-based cohort study	37
STModule: identifying tissue modules to uncover spatial components and characteristics of transcriptomic landscapes	36
SARS-CoV-2 infection induces a long-lived pro-inflammatory transcriptional profile	36
Addressing the routine failure to clinically identify monogenic cases of common disease	36
Identification of diagnostic candidates in Mendelian disorders using an RNA sequencing-centric approach	36
Identification of specific susceptibility loci for the early-onset colorectal cancer	36
Microglial heterogeneity in the ischemic stroke mouse brain of both sexes	36
Identification of a cytokine-dominated immunosuppressive class in squamous cell lung carcinoma with implications for immunotherapy resistance	35
Targeting CDC7 potentiates ATR-CHK1 signaling inhibition through induction of DNA replication stress in liver cancer	35
Multi-omics uncovers immune-modulatory molecules in plasma contributing to resistance exercise-ameliorated locomotor disability after incomplete spinal cord injury	35
Germline HLA-B evolutionary divergence influences the efficacy of immune checkpoint blockade therapy in gastrointestinal cancer	34
Antiprogestins reduce epigenetic field cancerization in breast tissue of young healthy women	34
The role of genetic testing in diagnosis and care of inherited cardiac conditions in a specialised multidisciplinary clinic	34
Knockout mice with pituitary malformations help identify human cases of hypopituitarism	34
Meta-analysis identifies common gut microbiota associated with multiple sclerosis	33
A dynamic single cell-based framework for digital twins to prioritize disease genes and drug targets	33
Post-vaccine epidemiology of serotype 3 pneumococci identifies transformation inhibition through prophage-driven alteration of a non-coding RNA	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
The impact of damaging epilepsy and cardiac genetic variant burden in sudden death in the young	33
Metronidazole response profiles of Gardnerella species are congruent with phylogenetic and comparative genomic analyses	32
ACT-Discover: identifying karyotype heterogeneity in pancreatic cancer evolution using ctDNA	32
Genome sequencing as a generic diagnostic strategy for rare disease	32
Evaluating the use of paralogous protein domains to increase data availability for missense variant classification	32
The case for including proteomics in routine diagnostic practice for rare disease	31
Smoking-associated gene expression alterations in nasal epithelium reveal immune impairment linked to lung cancer risk	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 pathways for genetic and epigenetic predisposition in familial and bilateral Wilms tumor	31
A new method for detecting mixed Mycobacterium tuberculosis infection and reconstructing constituent strains provides insights into transmission	31
Spatiotemporal single-cell analysis elucidates the cellular and molecular dynamics of human cornea aging	31
Interaction of bacterial genera associated with therapeutic response to immune checkpoint PD-1 blockade in a United States cohort	30
Meiotic and mitotic aneuploidies drive arrest of in vitro fertilized human preimplantation embryos	30
Ganciclovir-induced mutations are present in a diverse spectrum of post-transplant malignancies	30
Functional pre-therapeutic evaluation by genome editing of variants of uncertain significance of essential tumor suppressor genes	30
An 8-gene machine learning model improves clinical prediction of severe dengue progression	30
Integrative analysis of spatial and single-cell transcriptome data from human pancreatic cancer reveals an intermediate cancer cell population associated with poor prognosis	29
Cardiomyopathies in 100,000 genomes project: interval evaluation improves diagnostic yield and informs strategies for ongoing gene discovery	29
Gut microbiota predicts body fat change following a low-energy diet: a PREVIEW intervention study	29
Using multi-scale genomics to associate poorly annotated genes with rare diseases	29
A proteomics analysis of 5xFAD mouse brain regions reveals the lysosome-associated protein Arl8b as a candidate biomarker for Alzheimer’s disease	29
Intratumor heterogeneity and T cell exhaustion in primary CNS lymphoma	28
Spatial transcriptomics analysis of neoadjuvant cabozantinib and nivolumab in advanced hepatocellular carcinoma identifies independent mechanisms of resistance and recurrence	28
Accumulation of copy number alterations and clinical progression across advanced prostate cancer	28
spSeudoMap: cell type mapping of spatial transcriptomics using unmatched single-cell RNA-seq data	28
Location and condition based reconstruction of colon cancer microbiome from human RNA sequencing data	28
Distinct pathway-based effects of blood pressure and body mass index on cardiovascular traits: comparison of novel Mendelian randomization approaches	28
A transcriptome-wide association study of Alzheimer’s disease using prediction models of relevant tissues identifies novel candidate susceptibility genes	28
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
An expedited screening platform for the discovery of anti-ageing compounds in vitro and in vivo	27
Lethal variants in humans: lessons learned from a large molecular autopsy cohort	27
Molecular characteristics of breast tumors in patients screened for germline predisposition from a population-based observational study	27
SvAnna: efficient and accurate pathogenicity prediction of coding and regulatory structural variants in long-read genome sequencing	27
SARS-CoV-2 population dynamics in immunocompetent individuals in a closed transmission chain shows genomic diversity over the course of infection	27
Microbiota of the prostate tumor environment investigated by whole-transcriptome profiling	26
Penetrance estimation of Alzheimer disease in SORL1 loss-of-function variant carriers using a family-based strategy and stratification by APOE genotypes	26
Molecular-guided therapy for the treatment of patients with relapsed and refractory childhood cancers: a Beat Childhood Cancer Research Consortium trial	26
Keeping up with the pathogens: improved antimicrobial resistance detection and prediction from Pseudomonas aeruginosa genomes	26
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	25
De novo transcriptomic subtyping of colorectal cancer liver metastases in the context of tumor heterogeneity	25
Genome-wide identification and characterization of circular RNA m6A modification in pancreatic cancer	25
Clinical implementation of RNA sequencing for Mendelian disease diagnostics	25
varCADD: large sets of standing genetic variation enable genome-wide pathogenicity prediction	25
Ten-year longitudinal molecular epidemiology study of Escherichia coli and Klebsiella species bloodstream infections in Oxfordshire, UK	24
Impact of genetic risk and lifestyles on cardiovascular disease-free and total life expectancy: a cohort study	24
Therapy sculpts the complex interplay between cancer and the immune system during tumour evolution	24
Variation in targetable genomic alterations in non-small cell lung cancer by genetic ancestry, sex, smoking history, and histology	24
Mutation-Attention (MuAt): deep representation learning of somatic mutations for tumour typing and subtyping	24
Genome Tunisia Project: paving the way for precision medicine in North Africa	24
Race-specific coregulatory and transcriptomic profiles associated with DNA methylation and androgen receptor in prostate cancer	24
A genome-based survey of invasive pneumococci in Norway over four decades reveals lineage-specific responses to vaccination	24
Defining type 2 diabetes polygenic risk scores through colocalization and network-based clustering of metabolic trait genetic associations	24
The clinical utility of rapid exome sequencing in a consanguineous population	24
RNA profiling of blood platelets noninvasively differentiates colorectal cancer from healthy donors and noncancerous intestinal diseases: a retrospective cohort study	24

Single-cell profiling of response to neoadjuvant chemo-immunotherapy in surgically resectable esophageal squamous cell carcinoma	24
Single-cell profiling of human dura and meningioma reveals cellular meningeal landscape and insights into meningioma immune response	23
mRNA-based precision targeting of neoantigens and tumor-associated antigens in malignant brain tumors	23
Predicting MHC-I ligands across alleles and species: how far can we go?	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
Effect of clonal hematopoiesis on plaque morphology and prognosis in patients with acute myocardial infarction	23
CRAG: de novo characterization of cell-free DNA fragmentation hotspots in plasma whole-genome sequencing	23
Correction to: Genome-wide sequencing as a first-tier screening test for short tandem repeat expansions	22
Patient-focused pathogen genetic counselling—has the time come?	22
Predicting the presence of coronary plaques featuring high-risk characteristics using polygenic risk scores and targeted proteomics in patients with suspected coronary artery disease	21
Identifying latent genetic interactions in genome-wide association studies using multiple traits	21
Diagnostic yield of genetic screening in a diverse, community-ascertained cohort	21
Cell-type-specific subtyping of epigenomes improves prognostic stratification of cancer	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
Multi-omics colocalization with genome-wide association studies reveals a context-specific genetic mechanism at a childhood onset asthma risk locus	20
A novel transcriptional signature identifies T-cell infiltration in high-risk paediatric cancer	20
Discovering novel germline genetic variants linked to severe fluoropyrimidine-related toxicity in- and outside DPYD	20
KleTy: integrated typing scheme for core genome and plasmids reveals repeated emergence of multi-drug resistant epidemic lineages in Klebsiella worldwide	20
Integrating single-cell sequencing data with GWAS summary statistics reveals CD16+monocytes and memory CD8+T cells involved in severe COVID-19	20
Spatiotemporal evolution of the clear cell renal cell carcinoma microenvironment links intra-tumoral heterogeneity to immune escape	20
Clinical and genomic features of Mycobacterium avium complex: a multi-national European study	20
Single-cell genomic and transcriptomic landscapes of primary and metastatic colorectal cancer tumors	19
Genome-wide prediction of pathogenic gain- and loss-of-function variants from ensemble learning of a diverse feature set	19
The genetic case for cardiorespiratory fitness as a clinical vital sign and the routine prescription of physical activity in healthcare	19
Rare copy-number variants as modulators of common disease susceptibility	19
Gut microbial determinants of clinically important improvement in patients with rheumatoid arthritis	19
Single-cell exome sequencing reveals multiple subclones in metastatic colorectal carcinoma	18
Automated prioritization of sick newborns for whole genome sequencing using clinical natural language processing and machine learning	18
The genetics and epidemiology of N- and O-immunoglobulin A glycomics	18
Early detection of hepatocellular carcinoma via no end-repair enzymatic methylation sequencing of cell-free DNA and pre-trained neural network	18
The gut microbiota in multiple sclerosis varies with disease activity	17
Prostate cancers with distinct transcriptional programs in Black and White men	17
Systematic analysis of Mendelian disease-associated gene variants reveals new classes of cancer-predisposing genes	17
Single-cell transcriptomics reveals common epithelial response patterns in human acute kidney injury	17
Inter-species geographic signatures for tracing horizontal gene transfer and long-term persistence of carbapenem resistance	17
Correction: Rapid molecular diagnostics of tuberculosis resistance by targeted stool sequencing	17
The CXCL16/CXCR6 axis is linked to immune effector cell-associated neurotoxicity in chimeric antigen receptor (CAR) T cell therapy	17
Rare subclonal sequencing of breast cancers indicates putative metastatic driver mutations are predominately acquired after dissemination	17
Somatic mutational profiles and germline polygenic risk scores in human cancer	17
RNA polymerase I is essential for driving the formation of 3D genome in early embryonic development in mouse, but not in human	16
Single-cell analysis of immune and stroma cell remodeling in clear cell renal cell carcinoma primary tumors and bone metastatic lesions	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
Spatially resolved transcriptomic profiles reveal unique defining molecular features of infiltrative 5ALA-metabolizing cells associated with glioblastoma recurrence	16
Bi-allelic variants in BRF2 are associated with perinatal death and craniofacial anomalies	16
PhenoDP: leveraging deep learning for phenotype-based case reporting, disease ranking, and symptom recommendation	16
Genomic surveillance of multidrug-resistant organisms based on long-read sequencing	16
Genomic architecture of autism spectrum disorder in Qatar: The BARAKA-Qatar Study	16
Mechanistic insights into the interactions between cancer drivers and the tumour immune microenvironment	16
Utilizing genomics to identify novel immunotherapeutic targets in multiple myeloma high-risk subgroups	16
CTpathway: a CrossTalk-based pathway enrichment analysis method for cancer research	16
Molecular profiling of human non-small cell lung cancer by single-cell RNA-seq	16
Tumor microenvironment remodeling after neoadjuvant immunotherapy in non-small cell lung cancer revealed by single-cell RNA sequencing	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
Pre-operative clonal hematopoiesis is related to adverse outcome in lung cancer after adjuvant therapy	15
Gain and loss of TASK3 channel function and its regulation by novel variation cause KCNK9 imprinting syndrome	15
Sequencing individual genomes with recurrent genomic disorder deletions: an approach to characterize genes for autosomal recessive rare disease traits	15
Transcriptional signals of transformation in human cancer	15
High level of complexity and global diversity of the 3q29 locus revealed by optical mapping and long-read sequencing	15
Associations between HLA-II variation and antibody specificity are predicted by antigen properties	15
The genomic architecture of EBV and infected gastric tissue from precursor lesions to carcinoma	15
Correction: Single-nucleus transcriptomics reveals a distinct microglial state and increased MSR1-mediated phagocytosis as common features across dementia subtypes	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	14
Structural variant allelic heterogeneity in MECP2 duplication syndrome provides insight into clinical severity and variability of disease expression	14
STRchive: a dynamic resource detailing population-level and locus-specific insights at tandem repeat disease loci	14
Comprehensive de novo mutation discovery with HiFi long-read sequencing	14
Structural variants linked to Alzheimer’s disease and other common age-related clinical and neuropathologic traits	14
Insertion sequences accelerate genomic convergence of multidrug resistance and hypervirulence in Klebsiella pneumoniae via capsular phase variation	14
Long-read sequencing identifies copy-specific markers of SMN gene conversion in spinal muscular atrophy	14
Adipose methylome integrative-omic analyses reveal genetic and dietary metabolic health drivers and insulin resistance classifiers	14
A single-cell atlas of Schwannoma across genetic backgrounds and anatomic locations	14
scDrugPrio: a framework for the analysis of single-cell transcriptomics to address multiple problems in precision medicine in immune-mediated inflammatory diseases	13
Phylogenomic insights into evolutionary trajectories of multidrug resistant S. pneumoniae CC271 over a period of 14 years in China	13
Epigenetic timing effects on child developmental outcomes: a longitudinal meta-regression of findings from the Pregnancy And Childhood Epigenetics Consortium	13
A tool for CRISPR-Cas9 sgRNA evaluation based on computational models of gene expression	13
Epigenome-wide association studies identify novel DNA methylation sites associated with PTSD: a meta-analysis of 23 military and civilian cohorts	13
Longitudinal multi-omics analysis identifies early blood-based predictors of anti-TNF therapy response in inflammatory bowel disease	13
Combining chromosome conformation capture and exome sequencing for simultaneous detection of structural and single-nucleotide variants	13
Genetic constraint at single amino acid resolution in protein domains improves missense variant prioritisation and gene discovery	13
Developmental-status-aware transcriptional decomposition establishes a cell state panorama of human cancers	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
Microbiome-based prediction of allogeneic hematopoietic stem cell transplantation outcome	12
Quantitative thresholds for variant enrichment in 13,845 cases: improving pathogenicity classification in genetic hearing loss	12
Evaluating metagenomics and targeted approaches for diagnosis and surveillance of viruses	12
Genome-wide interrogation of structural variation reveals novel African-specific prostate cancer oncogenic drivers	12
Systematic analysis of genetic and phenotypic characteristics reveals antisense oligonucleotide therapy potential for one-third of neurodevelopmental disorders	12
Integrated analyses of multi-omic data derived from paired primary lung cancer and brain metastasis reveal the metabolic vulnerability as a novel therapeutic target	12
Publisher Correction: Penetrance estimation of Alzheimer disease in SORL1 loss-of-function variant carriers using a family-based strategy and stratification by APOE genotypes	12
Whole genome sequencing of 378 prostate cancer metastases reveals tissue selectivity for mismatch deficiency with potential therapeutic implications	12
Reanalysis of exome negative patients with rare disease: a pragmatic workflow for diagnostic applications	12
Breast cancer risks associated with missense variants in breast cancer susceptibility genes	12
Profiling diverse sequence tandem repeats in colorectal cancer reveals co-occurrence of microsatellite and chromosomal instability involving Chromosome 8	11
Rare damaging CCR2 variants are associated with lower lifetime cardiovascular risk	11