Genome Medicine

Papers
(The median citation count of Genome Medicine is 10. The table below lists those papers that are above that threshold based on CrossRef citation counts [max. 250 papers]. The publications cover those that have been published in the past four years, i.e., from 2021-07-01 to 2025-07-01.)
ArticleCitations
Single-molecule methylation profiles of cell-free DNA in cancer with nanopore sequencing555
Beyond the exome: utility of long-read whole genome sequencing in exome-negative autosomal recessive diseases492
Genome-aware annotation of CRISPR guides validates targets in variant cell lines and enhances discovery in screens223
Correction: Intricate interplay of CRISPR-Cas systems, anti-CRISPR proteins, and antimicrobial resistance genes in a globally successful multi-drug resistant Klebsiella pneumoniae clone180
Non-cancer-related pathogenic germline variants and expression consequences in ten-thousand cancer genomes176
Pervasiveness of HLA allele-specific expression loss across tumor types171
Curating genomic disease-gene relationships with Gene2Phenotype (G2P)159
The role of admixture in the rare variant contribution to inflammatory bowel disease146
Loss of p53-DREAM-mediated repression of cell cycle genes as a driver of lymph node metastasis in head and neck cancer137
Leveraging new methods for comprehensive characterization of mitochondrial DNA in esophageal squamous cell carcinoma134
Neutrophil extracellular traps have auto-catabolic activity and produce mononucleosome-associated circulating DNA133
Integrative epigenomic and high-throughput functional enhancer profiling reveals determinants of enhancer heterogeneity in gastric cancer128
DNA demethylation triggers cell free DNA release in colorectal cancer cells108
Universal clinical Parkinson’s disease axes identify a major influence of neuroinflammation106
Publisher Correction: Analysis of transcriptomic features reveals molecular endotypes of SLE with clinical implications105
The landcape of Helicobacter pylori-mediated DNA breaks links bacterial genotoxicity to its oncogenic potential105
The multiple de novo copy number variant (MdnCNV) phenomenon presents with peri-zygotic DNA mutational signatures and multilocus pathogenic variation102
De novo identification of expressed cancer somatic mutations from single-cell RNA sequencing data95
Spatial intra-tumour heterogeneity and treatment-induced genomic evolution in oesophageal adenocarcinoma: implications for prognosis and therapy90
Large-scale discovery of novel neurodevelopmental disorder-related genes through a unified analysis of single-nucleotide and copy number variants89
The lung microbiome, peripheral gene expression, and recurrence-free survival after resection of stage II non-small cell lung cancer89
Ethnic variations in metabolic syndrome components and their associations with the gut microbiota: the HELIUS study80
Glioblastoma-instructed microglia transition to heterogeneous phenotypic states with phagocytic and dendritic cell-like features in patient tumors and patient-derived orthotopic xenografts77
The vaginal microbiota and innate immunity after local excisional treatment for cervical intraepithelial neoplasia72
INSaFLU-TELEVIR: an open web-based bioinformatics suite for viral metagenomic detection and routine genomic surveillance71
Neutralization sensitivity, fusogenicity, and infectivity of Omicron subvariants70
Shared genetic architecture between irritable bowel syndrome and psychiatric disorders reveals molecular pathways of the gut-brain axis70
Using single-nucleus RNA-sequencing to interrogate transcriptomic profiles of archived human pancreatic islets68
Diversity in EWAS: current state, challenges, and solutions67
Tracing carriage, acquisition, and transmission of ESBL-producing Escherichia coli over two years in a tertiary care hospital62
Correction: Genome Med 15, 115 & Genome Med 16, 361
Full-spectral genome analysis of natural killer/T cell lymphoma highlights impacts of genome instability in driving its progression61
Comprehensive multi-omics integration identifies differentially active enhancers during human brain development with clinical relevance59
Integrated genomic analyses of acral and mucosal melanomas nominate novel driver genes59
Genomic and transcriptomic features between primary and paired metastatic fumarate hydratase–deficient renal cell carcinoma59
Biological basis of extensive pleiotropy between blood traits and cancer risk59
Comprehensive pathogen identification and antimicrobial resistance prediction from positive blood cultures using nanopore sequencing technology59
Longitudinal analysis of genetic and environmental interplay in human metabolic profiles and the implication for metabolic health58
Single-cell transcriptomics reveals a mechanosensitive injury signaling pathway in early diabetic nephropathy57
ClinVar and HGMD genomic variant classification accuracy has improved over time, as measured by implied disease burden57
Rapid whole genome sequencing of critically ill pediatric patients from genetically underrepresented populations56
Single-nucleus RNA sequencing of human pancreatic islets identifies novel gene sets and distinguishes β-cell subpopulations with dynamic transcriptome profiles56
Metabolome-wide Mendelian randomization for age at menarche and age at natural menopause55
The effects of the Green-Mediterranean diet on cardiometabolic health are linked to gut microbiome modifications: a randomized controlled trial54
Skeletal muscle regeneration failure in ischemic-damaged limbs is associated with pro-inflammatory macrophages and premature differentiation of satellite cells53
An implementation science approach to evaluating pathogen whole genome sequencing in public health51
DNA methylation memory of pancreatic acinar-ductal metaplasia transition state altering Kras-downstream PI3K and Rho GTPase signaling in the absence of Kras mutation51
The telomere maintenance mechanism spectrum and its dynamics in gliomas51
The WID-CIN test identifies women with, and at risk of, cervical intraepithelial neoplasia grade 3 and invasive cervical cancer50
High fluoroquinolone resistance proportions among multidrug-resistant tuberculosis driven by dominant L2 Mycobacterium tuberculosis clones in the Mumbai Metropolitan Region49
A novel molecular signature identifies mixed subtypes in renal cell carcinoma with poor prognosis and independent response to immunotherapy49
TP53 germline testing and hereditary cancer: how somatic events and clinical criteria affect variant detection rate47
Applications of long-read sequencing to Mendelian genetics46
Single-cell multimodal analysis identifies common regulatory programs in synovial fibroblasts of rheumatoid arthritis patients and modeled TNF-driven arthritis46
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 46
Refining epigenetic prediction of chronological and biological age45
Multi-label transcriptional classification of colorectal cancer reflects tumor cell population heterogeneity45
A small number of early introductions seeded widespread transmission of SARS-CoV-2 in Québec, Canada45
Single-cell transcriptomic analysis reveals tumor cell heterogeneity and immune microenvironment features of pituitary neuroendocrine tumors45
High-grade serous tubo-ovarian cancer refined with single-cell RNA sequencing: specific cell subtypes influence survival and determine molecular subtype classification44
Secondary resistance to anti-EGFR therapy by transcriptional reprogramming in patient-derived colorectal cancer models43
Acetyl-CoA metabolism drives epigenome change and contributes to carcinogenesis risk in fatty liver disease43
Integrated study of systemic and local airway transcriptomes in asthma reveals causal mediation of systemic effects by airway key drivers42
Transcriptional immunogenomic analysis reveals distinct immunological clusters in paediatric nervous system tumours42
T cell receptor beta germline variability is revealed by inference from repertoire data42
Large-scale copy number alterations are enriched for synthetic viability in BRCA1/BRCA2 tumors42
Correction: Acetyl-CoA metabolism drives epigenome change and contributes to carcinogenesis risk in fatty liver disease42
Clonal evolution in primary breast cancers under sequential epirubicin and docetaxel monotherapy41
Cell type-specific changes identified by single-cell transcriptomics in Alzheimer’s disease41
The TyphiNET data visualisation dashboard: unlocking Salmonella Typhi genomics data to support public health41
Applicability of epigenetic age models to next-generation methylation arrays41
Neutralising reactivity against SARS-CoV-2 Delta and Omicron variants by vaccination and infection history40
A robust deep learning workflow to predict CD8 + T-cell epitopes39
Identification of novel protein biomarkers and drug targets for colorectal cancer by integrating human plasma proteome with genome39
Multiscale heterogeneity in gastric adenocarcinoma evolution is an obstacle to precision medicine38
Addressing the routine failure to clinically identify monogenic cases of common disease38
Microglial heterogeneity in the ischemic stroke mouse brain of both sexes38
Influence network model uncovers relations between biological processes and mutational signatures38
imply: improving cell-type deconvolution accuracy using personalized reference profiles37
A global overview of genetically interpretable multimorbidities among common diseases in the UK Biobank37
Recombination and lineage-specific mutations linked to the emergence of SARS-CoV-237
Plasma microRNA signatures of aging and their links to health outcomes and mortality: findings from a population-based cohort study37
Prioritizing genes associated with brain disorders by leveraging enhancer-promoter interactions in diverse neural cells and tissues37
Identification of diagnostic candidates in Mendelian disorders using an RNA sequencing-centric approach36
SARS-CoV-2 infection induces a long-lived pro-inflammatory transcriptional profile36
Integrating metabolomics and proteomics to identify novel drug targets for heart failure and atrial fibrillation36
PLCG2 is associated with the inflammatory response and is induced by amyloid plaques in Alzheimer’s disease36
Multi-omics uncovers immune-modulatory molecules in plasma contributing to resistance exercise-ameliorated locomotor disability after incomplete spinal cord injury35
Germline HLA-B evolutionary divergence influences the efficacy of immune checkpoint blockade therapy in gastrointestinal cancer35
NODAL variants are associated with a continuum of laterality defects from simple D-transposition of the great arteries to heterotaxy35
Return of non-ACMG recommended incidental genetic findings to pediatric patients: considerations and opportunities from experiences in genomic sequencing35
Identification of specific susceptibility loci for the early-onset colorectal cancer35
STModule: identifying tissue modules to uncover spatial components and characteristics of transcriptomic landscapes35
A dynamic single cell-based framework for digital twins to prioritize disease genes and drug targets34
GenTB: A user-friendly genome-based predictor for tuberculosis resistance powered by machine learning34
Knockout mice with pituitary malformations help identify human cases of hypopituitarism34
Genome sequencing as a generic diagnostic strategy for rare disease34
The role of genetic testing in diagnosis and care of inherited cardiac conditions in a specialised multidisciplinary clinic33
Antiprogestins reduce epigenetic field cancerization in breast tissue of young healthy women33
Single-nucleus transcriptome analysis of human brain immune response in patients with severe COVID-1933
ENU-based dominant genetic screen identifies contractile and neuronal gene mutations in congenital heart disease33
Targeting CDC7 potentiates ATR-CHK1 signaling inhibition through induction of DNA replication stress in liver cancer33
Post-vaccine epidemiology of serotype 3 pneumococci identifies transformation inhibition through prophage-driven alteration of a non-coding RNA32
Meta-analysis identifies common gut microbiota associated with multiple sclerosis32
The impact of damaging epilepsy and cardiac genetic variant burden in sudden death in the young32
Evaluating the use of paralogous protein domains to increase data availability for missense variant classification32
Identification of a cytokine-dominated immunosuppressive class in squamous cell lung carcinoma with implications for immunotherapy resistance32
Metronidazole response profiles of Gardnerella species are congruent with phylogenetic and comparative genomic analyses32
Distinct pathways for genetic and epigenetic predisposition in familial and bilateral Wilms tumor31
Spatiotemporal single-cell analysis elucidates the cellular and molecular dynamics of human cornea aging31
ACT-Discover: identifying karyotype heterogeneity in pancreatic cancer evolution using ctDNA31
The case for including proteomics in routine diagnostic practice for rare disease31
Smoking-associated gene expression alterations in nasal epithelium reveal immune impairment linked to lung cancer risk31
Interaction of bacterial genera associated with therapeutic response to immune checkpoint PD-1 blockade in a United States cohort30
Long-term persistence of diverse clones shapes the transmission landscape of invasive Listeria monocytogenes30
A new method for detecting mixed Mycobacterium tuberculosis infection and reconstructing constituent strains provides insights into transmission30
Meiotic and mitotic aneuploidies drive arrest of in vitro fertilized human preimplantation embryos30
Functional pre-therapeutic evaluation by genome editing of variants of uncertain significance of essential tumor suppressor genes30
The emergence of highly resistant and hypervirulent Klebsiella pneumoniae CC14 clone in a tertiary hospital over 8 years30
Cardiomyopathies in 100,000 genomes project: interval evaluation improves diagnostic yield and informs strategies for ongoing gene discovery29
Gut microbiota predicts body fat change following a low-energy diet: a PREVIEW intervention study29
A transcriptome-wide association study of Alzheimer’s disease using prediction models of relevant tissues identifies novel candidate susceptibility genes29
Ganciclovir-induced mutations are present in a diverse spectrum of post-transplant malignancies29
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 wit29
Spatial transcriptomics analysis of neoadjuvant cabozantinib and nivolumab in advanced hepatocellular carcinoma identifies independent mechanisms of resistance and recurrence29
An 8-gene machine learning model improves clinical prediction of severe dengue progression29
Location and condition based reconstruction of colon cancer microbiome from human RNA sequencing data28
Using multi-scale genomics to associate poorly annotated genes with rare diseases28
spSeudoMap: cell type mapping of spatial transcriptomics using unmatched single-cell RNA-seq data28
Distinct pathway-based effects of blood pressure and body mass index on cardiovascular traits: comparison of novel Mendelian randomization approaches28
A proteomics analysis of 5xFAD mouse brain regions reveals the lysosome-associated protein Arl8b as a candidate biomarker for Alzheimer’s disease28
Intratumor heterogeneity and T cell exhaustion in primary CNS lymphoma28
Accumulation of copy number alterations and clinical progression across advanced prostate cancer27
Keeping up with the pathogens: improved antimicrobial resistance detection and prediction from Pseudomonas aeruginosa genomes27
Integrative analysis of spatial and single-cell transcriptome data from human pancreatic cancer reveals an intermediate cancer cell population associated with poor prognosis27
An expedited screening platform for the discovery of anti-ageing compounds in vitro and in vivo27
A genome-based survey of invasive pneumococci in Norway over four decades reveals lineage-specific responses to vaccination26
Microbiota of the prostate tumor environment investigated by whole-transcriptome profiling26
Non-coding cis-regulatory variants in HK1 cause congenital hyperinsulinism with variable disease severity26
SARS-CoV-2 population dynamics in immunocompetent individuals in a closed transmission chain shows genomic diversity over the course of infection26
Molecular-guided therapy for the treatment of patients with relapsed and refractory childhood cancers: a Beat Childhood Cancer Research Consortium trial25
RNA profiling of blood platelets noninvasively differentiates colorectal cancer from healthy donors and noncancerous intestinal diseases: a retrospective cohort study25
Molecular characteristics of breast tumors in patients screened for germline predisposition from a population-based observational study25
Lethal variants in humans: lessons learned from a large molecular autopsy cohort25
SvAnna: efficient and accurate pathogenicity prediction of coding and regulatory structural variants in long-read genome sequencing25
Genome-wide identification and characterization of circular RNA m6A modification in pancreatic cancer25
Therapy sculpts the complex interplay between cancer and the immune system during tumour evolution24
Penetrance estimation of Alzheimer disease in SORL1 loss-of-function variant carriers using a family-based strategy and stratification by APOE genotypes24
Clinical implementation of RNA sequencing for Mendelian disease diagnostics24
Genome Tunisia Project: paving the way for precision medicine in North Africa24
Defining type 2 diabetes polygenic risk scores through colocalization and network-based clustering of metabolic trait genetic associations24
De novo transcriptomic subtyping of colorectal cancer liver metastases in the context of tumor heterogeneity24
Identification of TBX15 as an adipose master trans regulator of abdominal obesity genes24
Single-cell profiling of response to neoadjuvant chemo-immunotherapy in surgically resectable esophageal squamous cell carcinoma24
Race-specific coregulatory and transcriptomic profiles associated with DNA methylation and androgen receptor in prostate cancer23
mRNA-based precision targeting of neoantigens and tumor-associated antigens in malignant brain tumors23
Correction: FOXC1-mediated LINC00301 facilitates tumor progression and triggers an immune-suppressing microenvironment in non-small cell lung cancer by regulating the HIF1α pathway23
CRAG: de novo characterization of cell-free DNA fragmentation hotspots in plasma whole-genome sequencing23
Mutation-Attention (MuAt): deep representation learning of somatic mutations for tumour typing and subtyping23
Ten-year longitudinal molecular epidemiology study of Escherichia coli and Klebsiella species bloodstream infections in Oxfordshire, UK23
Correction to: Genome-wide sequencing as a first-tier screening test for short tandem repeat expansions23
Variation in targetable genomic alterations in non-small cell lung cancer by genetic ancestry, sex, smoking history, and histology23
The clinical utility of rapid exome sequencing in a consanguineous population23
Single-cell profiling of human dura and meningioma reveals cellular meningeal landscape and insights into meningioma immune response23
Predicting MHC-I ligands across alleles and species: how far can we go?23
We need to bring R0 < 1 to treat cancer too22
Predicting the presence of coronary plaques featuring high-risk characteristics using polygenic risk scores and targeted proteomics in patients with suspected coronary artery disease22
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 locus22
Discovering novel germline genetic variants linked to severe fluoropyrimidine-related toxicity in- and outside DPYD22
Cell-type-specific subtyping of epigenomes improves prognostic stratification of cancer21
Gut microbial determinants of clinically important improvement in patients with rheumatoid arthritis21
Intra-patient stability of tumor mutational burden from tissue biopsies at different time points in advanced cancers21
Integrating single-cell sequencing data with GWAS summary statistics reveals CD16+monocytes and memory CD8+T cells involved in severe COVID-1921
Identifying latent genetic interactions in genome-wide association studies using multiple traits21
Clinical and genomic features of Mycobacterium avium complex: a multi-national European study21
KleTy: integrated typing scheme for core genome and plasmids reveals repeated emergence of multi-drug resistant epidemic lineages in Klebsiella worldwide20
Illuminating links between cis-regulators and trans-acting variants in the human prefrontal cortex20
Spatiotemporal evolution of the clear cell renal cell carcinoma microenvironment links intra-tumoral heterogeneity to immune escape20
Diagnostic yield of genetic screening in a diverse, community-ascertained cohort20
Single-cell genomic and transcriptomic landscapes of primary and metastatic colorectal cancer tumors20
Rare copy-number variants as modulators of common disease susceptibility20
Genome-wide prediction of pathogenic gain- and loss-of-function variants from ensemble learning of a diverse feature set19
Systematic analysis of Mendelian disease-associated gene variants reveals new classes of cancer-predisposing genes19
Single-cell transcriptomics reveals common epithelial response patterns in human acute kidney injury19
The gut microbiota in multiple sclerosis varies with disease activity19
Developmental dynamics of voltage-gated sodium channel isoform expression in the human and mouse brain19
A novel transcriptional signature identifies T-cell infiltration in high-risk paediatric cancer19
The genetics and epidemiology of N- and O-immunoglobulin A glycomics19
Automated prioritization of sick newborns for whole genome sequencing using clinical natural language processing and machine learning19
Early detection of hepatocellular carcinoma via no end-repair enzymatic methylation sequencing of cell-free DNA and pre-trained neural network19
The genetic case for cardiorespiratory fitness as a clinical vital sign and the routine prescription of physical activity in healthcare19
Rare subclonal sequencing of breast cancers indicates putative metastatic driver mutations are predominately acquired after dissemination19
Single-cell exome sequencing reveals multiple subclones in metastatic colorectal carcinoma19
Inter-species geographic signatures for tracing horizontal gene transfer and long-term persistence of carbapenem resistance19
Correction: Rapid molecular diagnostics of tuberculosis resistance by targeted stool sequencing18
Multi-site tumor sampling highlights molecular intra-tumor heterogeneity in malignant pleural mesothelioma18
Prostate cancers with distinct transcriptional programs in Black and White men18
Genomic architecture of autism spectrum disorder in Qatar: The BARAKA-Qatar Study18
The CXCL16/CXCR6 axis is linked to immune effector cell-associated neurotoxicity in chimeric antigen receptor (CAR) T cell therapy18
CTpathway: a CrossTalk-based pathway enrichment analysis method for cancer research17
Molecular profiling of human non-small cell lung cancer by single-cell RNA-seq17
Mechanistic insights into the interactions between cancer drivers and the tumour immune microenvironment17
Single-cell analysis of immune and stroma cell remodeling in clear cell renal cell carcinoma primary tumors and bone metastatic lesions17
Somatic mutational profiles and germline polygenic risk scores in human cancer17
Bi-allelic variants in BRF2 are associated with perinatal death and craniofacial anomalies17
Genomic surveillance of multidrug-resistant organisms based on long-read sequencing17
PhenoDP: leveraging deep learning for phenotype-based case reporting, disease ranking, and symptom recommendation16
Preventing disease progression in multiple sclerosis—insights from large real-world cohorts16
Transcriptional signals of transformation in human cancer16
RNA polymerase I is essential for driving the formation of 3D genome in early embryonic development in mouse, but not in human16
Spatially resolved transcriptomic profiles reveal unique defining molecular features of infiltrative 5ALA-metabolizing cells associated with glioblastoma recurrence16
Development and validation of a trans-ancestry polygenic risk score for type 2 diabetes in diverse populations16
A single-cell atlas of Schwannoma across genetic backgrounds and anatomic locations16
An atlas of cell-type-specific interactome networks across 44 human tumor types16
Unsupervised spatially embedded deep representation of spatial transcriptomics16
Sequencing individual genomes with recurrent genomic disorder deletions: an approach to characterize genes for autosomal recessive rare disease traits16
Tumor microenvironment remodeling after neoadjuvant immunotherapy in non-small cell lung cancer revealed by single-cell RNA sequencing16
Associations between HLA-II variation and antibody specificity are predicted by antigen properties15
Structural variant allelic heterogeneity in MECP2 duplication syndrome provides insight into clinical severity and variability of disease expression15
Distinct signatures of codon and codon pair usage in 32 primary tumor types in the novel database CancerCoCoPUTs for cancer-specific codon usage15
Long-read sequencing identifies copy-specific markers of SMN gene conversion in spinal muscular atrophy15
Gain and loss of TASK3 channel function and its regulation by novel variation cause KCNK9 imprinting syndrome15
Comprehensive de novo mutation discovery with HiFi long-read sequencing15
STRchive: a dynamic resource detailing population-level and locus-specific insights at tandem repeat disease loci15
Adipose methylome integrative-omic analyses reveal genetic and dietary metabolic health drivers and insulin resistance classifiers15
Pre-operative clonal hematopoiesis is related to adverse outcome in lung cancer after adjuvant therapy15
High level of complexity and global diversity of the 3q29 locus revealed by optical mapping and long-read sequencing15
Structural variants linked to Alzheimer’s disease and other common age-related clinical and neuropathologic traits15
Spatial transcriptomic analysis of Sonic hedgehog medulloblastoma identifies that the loss of heterogeneity and promotion of differentiation underlies the response to CDK4/6 inhibition14
Combining chromosome conformation capture and exome sequencing for simultaneous detection of structural and single-nucleotide variants14
Whole genome sequencing of 378 prostate cancer metastases reveals tissue selectivity for mismatch deficiency with potential therapeutic implications14
The genomic architecture of EBV and infected gastric tissue from precursor lesions to carcinoma14
Phylogenomic insights into evolutionary trajectories of multidrug resistant S. pneumoniae CC271 over a period of 14 years in China14
Genome-wide interrogation of structural variation reveals novel African-specific prostate cancer oncogenic drivers14
scDrugPrio: a framework for the analysis of single-cell transcriptomics to address multiple problems in precision medicine in immune-mediated inflammatory diseases14
Systematic analysis of genetic and phenotypic characteristics reveals antisense oligonucleotide therapy potential for one-third of neurodevelopmental disorders13
Epigenetic timing effects on child developmental outcomes: a longitudinal meta-regression of findings from the Pregnancy And Childhood Epigenetics Consortium13
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 study13
Insertion sequences accelerate genomic convergence of multidrug resistance and hypervirulence in Klebsiella pneumoniae via capsular phase variation13
Longitudinal multi-omics analysis identifies early blood-based predictors of anti-TNF therapy response in inflammatory bowel disease13
A tool for CRISPR-Cas9 sgRNA evaluation based on computational models of gene expression13
Genetic constraint at single amino acid resolution in protein domains improves missense variant prioritisation and gene discovery13
Reanalysis of exome negative patients with rare disease: a pragmatic workflow for diagnostic applications13
Genome-wide sequencing as a first-tier screening test for short tandem repeat expansions13
Sequence dependencies and mutation rates of localized mutational processes in cancer12
Clustering of predicted loss-of-function variants in genes linked with monogenic disease can explain incomplete penetrance12
Evaluating metagenomics and targeted approaches for diagnosis and surveillance of viruses12
Identification of novel genetic risk factors of dilated cardiomyopathy: from canine to human12
Genomic medicine in the Middle East12
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