Genome Medicine

Article	Citations
Single-molecule methylation profiles of cell-free DNA in cancer with nanopore sequencing	555
Beyond the exome: utility of long-read whole genome sequencing in exome-negative autosomal recessive diseases	492
Genome-aware annotation of CRISPR guides validates targets in variant cell lines and enhances discovery in screens	223
Correction: Intricate interplay of CRISPR-Cas systems, anti-CRISPR proteins, and antimicrobial resistance genes in a globally successful multi-drug resistant Klebsiella pneumoniae clone	180
Non-cancer-related pathogenic germline variants and expression consequences in ten-thousand cancer genomes	176
Pervasiveness of HLA allele-specific expression loss across tumor types	171
Curating genomic disease-gene relationships with Gene2Phenotype (G2P)	159
The role of admixture in the rare variant contribution to inflammatory bowel disease	146
Loss of p53-DREAM-mediated repression of cell cycle genes as a driver of lymph node metastasis in head and neck cancer	137
Leveraging new methods for comprehensive characterization of mitochondrial DNA in esophageal squamous cell carcinoma	134
Neutrophil extracellular traps have auto-catabolic activity and produce mononucleosome-associated circulating DNA	133
Integrative epigenomic and high-throughput functional enhancer profiling reveals determinants of enhancer heterogeneity in gastric cancer	128
DNA demethylation triggers cell free DNA release in colorectal cancer cells	108
Universal clinical Parkinson’s disease axes identify a major influence of neuroinflammation	106
Publisher Correction: Analysis of transcriptomic features reveals molecular endotypes of SLE with clinical implications	105
The landcape of Helicobacter pylori-mediated DNA breaks links bacterial genotoxicity to its oncogenic potential	105
The multiple de novo copy number variant (MdnCNV) phenomenon presents with peri-zygotic DNA mutational signatures and multilocus pathogenic variation	102
De novo identification of expressed cancer somatic mutations from single-cell RNA sequencing data	95
Spatial intra-tumour heterogeneity and treatment-induced genomic evolution in oesophageal adenocarcinoma: implications for prognosis and therapy	90
Large-scale discovery of novel neurodevelopmental disorder-related genes through a unified analysis of single-nucleotide and copy number variants	89
The lung microbiome, peripheral gene expression, and recurrence-free survival after resection of stage II non-small cell lung cancer	89
Ethnic variations in metabolic syndrome components and their associations with the gut microbiota: the HELIUS study	80
Glioblastoma-instructed microglia transition to heterogeneous phenotypic states with phagocytic and dendritic cell-like features in patient tumors and patient-derived orthotopic xenografts	77
The vaginal microbiota and innate immunity after local excisional treatment for cervical intraepithelial neoplasia	72
INSaFLU-TELEVIR: an open web-based bioinformatics suite for viral metagenomic detection and routine genomic surveillance	71

Neutralization sensitivity, fusogenicity, and infectivity of Omicron subvariants	70
Shared genetic architecture between irritable bowel syndrome and psychiatric disorders reveals molecular pathways of the gut-brain axis	70
Using single-nucleus RNA-sequencing to interrogate transcriptomic profiles of archived human pancreatic islets	68
Diversity in EWAS: current state, challenges, and solutions	67
Tracing carriage, acquisition, and transmission of ESBL-producing Escherichia coli over two years in a tertiary care hospital	62
Correction: Genome Med 15, 115 & Genome Med 16, 3	61
Full-spectral genome analysis of natural killer/T cell lymphoma highlights impacts of genome instability in driving its progression	61
Comprehensive multi-omics integration identifies differentially active enhancers during human brain development with clinical relevance	59
Integrated genomic analyses of acral and mucosal melanomas nominate novel driver genes	59
Genomic and transcriptomic features between primary and paired metastatic fumarate hydratase–deficient renal cell carcinoma	59
Biological basis of extensive pleiotropy between blood traits and cancer risk	59
Comprehensive pathogen identification and antimicrobial resistance prediction from positive blood cultures using nanopore sequencing technology	59
Longitudinal analysis of genetic and environmental interplay in human metabolic profiles and the implication for metabolic health	58
Single-cell transcriptomics reveals a mechanosensitive injury signaling pathway in early diabetic nephropathy	57
ClinVar and HGMD genomic variant classification accuracy has improved over time, as measured by implied disease burden	57
Rapid whole genome sequencing of critically ill pediatric patients from genetically underrepresented populations	56
Single-nucleus RNA sequencing of human pancreatic islets identifies novel gene sets and distinguishes β-cell subpopulations with dynamic transcriptome profiles	56
Metabolome-wide Mendelian randomization for age at menarche and age at natural menopause	55
The effects of the Green-Mediterranean diet on cardiometabolic health are linked to gut microbiome modifications: a randomized controlled trial	54
Skeletal muscle regeneration failure in ischemic-damaged limbs is associated with pro-inflammatory macrophages and premature differentiation of satellite cells	53
An implementation science approach to evaluating pathogen whole genome sequencing in public health	51
DNA methylation memory of pancreatic acinar-ductal metaplasia transition state altering Kras-downstream PI3K and Rho GTPase signaling in the absence of Kras mutation	51
The telomere maintenance mechanism spectrum and its dynamics in gliomas	51
The WID-CIN test identifies women with, and at risk of, cervical intraepithelial neoplasia grade 3 and invasive cervical cancer	50
High fluoroquinolone resistance proportions among multidrug-resistant tuberculosis driven by dominant L2 Mycobacterium tuberculosis clones in the Mumbai Metropolitan Region	49
A novel molecular signature identifies mixed subtypes in renal cell carcinoma with poor prognosis and independent response to immunotherapy	49
TP53 germline testing and hereditary cancer: how somatic events and clinical criteria affect variant detection rate	47
Applications of long-read sequencing to Mendelian genetics	46
Single-cell multimodal analysis identifies common regulatory programs in synovial fibroblasts of rheumatoid arthritis patients and modeled TNF-driven arthritis	46
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 age	45
Multi-label transcriptional classification of colorectal cancer reflects tumor cell population heterogeneity	45
A small number of early introductions seeded widespread transmission of SARS-CoV-2 in Québec, Canada	45
Single-cell transcriptomic analysis reveals tumor cell heterogeneity and immune microenvironment features of pituitary neuroendocrine tumors	45
High-grade serous tubo-ovarian cancer refined with single-cell RNA sequencing: specific cell subtypes influence survival and determine molecular subtype classification	44
Secondary resistance to anti-EGFR therapy by transcriptional reprogramming in patient-derived colorectal cancer models	43
Acetyl-CoA metabolism drives epigenome change and contributes to carcinogenesis risk in fatty liver disease	43
Integrated study of systemic and local airway transcriptomes in asthma reveals causal mediation of systemic effects by airway key drivers	42
Transcriptional immunogenomic analysis reveals distinct immunological clusters in paediatric nervous system tumours	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
Correction: Acetyl-CoA metabolism drives epigenome change and contributes to carcinogenesis risk in fatty liver disease	42
Clonal evolution in primary breast cancers under sequential epirubicin and docetaxel monotherapy	41
Cell type-specific changes identified by single-cell transcriptomics in Alzheimer’s disease	41
The TyphiNET data visualisation dashboard: unlocking Salmonella Typhi genomics data to support public health	41
Applicability of epigenetic age models to next-generation methylation arrays	41
Neutralising reactivity against SARS-CoV-2 Delta and Omicron variants by vaccination and infection history	40
A robust deep learning workflow to predict CD8 + T-cell epitopes	39
Identification of novel protein biomarkers and drug targets for colorectal cancer by integrating human plasma proteome with genome	39
Multiscale heterogeneity in gastric adenocarcinoma evolution is an obstacle to precision medicine	38

Addressing the routine failure to clinically identify monogenic cases of common disease	38
Microglial heterogeneity in the ischemic stroke mouse brain of both sexes	38
Influence network model uncovers relations between biological processes and mutational signatures	38
imply: improving cell-type deconvolution accuracy using personalized reference profiles	37
A global overview of genetically interpretable multimorbidities among common diseases in the UK Biobank	37
Recombination and lineage-specific mutations linked to the emergence of SARS-CoV-2	37
Plasma microRNA signatures of aging and their links to health outcomes and mortality: findings from a population-based cohort study	37
Prioritizing genes associated with brain disorders by leveraging enhancer-promoter interactions in diverse neural cells and tissues	37
Identification of diagnostic candidates in Mendelian disorders using an RNA sequencing-centric approach	36
SARS-CoV-2 infection induces a long-lived pro-inflammatory transcriptional profile	36
Integrating metabolomics and proteomics to identify novel drug targets for heart failure and atrial fibrillation	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
Germline HLA-B evolutionary divergence influences the efficacy of immune checkpoint blockade therapy in gastrointestinal cancer	35
NODAL variants are associated with a continuum of laterality defects from simple D-transposition of the great arteries to heterotaxy	35
Return of non-ACMG recommended incidental genetic findings to pediatric patients: considerations and opportunities from experiences in genomic sequencing	35
Identification of specific susceptibility loci for the early-onset colorectal cancer	35
STModule: identifying tissue modules to uncover spatial components and characteristics of transcriptomic landscapes	35
A dynamic single cell-based framework for digital twins to prioritize disease genes and drug targets	34
GenTB: A user-friendly genome-based predictor for tuberculosis resistance powered by machine learning	34
Knockout mice with pituitary malformations help identify human cases of hypopituitarism	34
Genome sequencing as a generic diagnostic strategy for rare disease	34
The role of genetic testing in diagnosis and care of inherited cardiac conditions in a specialised multidisciplinary clinic	33
Antiprogestins reduce epigenetic field cancerization in breast tissue of young healthy women	33
Single-nucleus transcriptome analysis of human brain immune response in patients with severe COVID-19	33
ENU-based dominant genetic screen identifies contractile and neuronal gene mutations in congenital heart disease	33
Targeting CDC7 potentiates ATR-CHK1 signaling inhibition through induction of DNA replication stress in liver cancer	33
Post-vaccine epidemiology of serotype 3 pneumococci identifies transformation inhibition through prophage-driven alteration of a non-coding RNA	32
Meta-analysis identifies common gut microbiota associated with multiple sclerosis	32
The impact of damaging epilepsy and cardiac genetic variant burden in sudden death in the young	32
Evaluating the use of paralogous protein domains to increase data availability for missense variant classification	32
Identification of a cytokine-dominated immunosuppressive class in squamous cell lung carcinoma with implications for immunotherapy resistance	32
Metronidazole response profiles of Gardnerella species are congruent with phylogenetic and comparative genomic analyses	32
Distinct pathways for genetic and epigenetic predisposition in familial and bilateral Wilms tumor	31
Spatiotemporal single-cell analysis elucidates the cellular and molecular dynamics of human cornea aging	31
ACT-Discover: identifying karyotype heterogeneity in pancreatic cancer evolution using ctDNA	31
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
Interaction of bacterial genera associated with therapeutic response to immune checkpoint PD-1 blockade in a United States cohort	30
Long-term persistence of diverse clones shapes the transmission landscape of invasive Listeria monocytogenes	30
A new method for detecting mixed Mycobacterium tuberculosis infection and reconstructing constituent strains provides insights into transmission	30
Meiotic and mitotic aneuploidies drive arrest of in vitro fertilized human preimplantation embryos	30
Functional pre-therapeutic evaluation by genome editing of variants of uncertain significance of essential tumor suppressor genes	30
The emergence of highly resistant and hypervirulent Klebsiella pneumoniae CC14 clone in a tertiary hospital over 8 years	30
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
A transcriptome-wide association study of Alzheimer’s disease using prediction models of relevant tissues identifies novel candidate susceptibility genes	29
Ganciclovir-induced mutations are present in a diverse spectrum of post-transplant malignancies	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
Spatial transcriptomics analysis of neoadjuvant cabozantinib and nivolumab in advanced hepatocellular carcinoma identifies independent mechanisms of resistance and recurrence	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	28
Using multi-scale genomics to associate poorly annotated genes with rare diseases	28
spSeudoMap: cell type mapping of spatial transcriptomics using unmatched single-cell RNA-seq data	28
Distinct pathway-based effects of blood pressure and body mass index on cardiovascular traits: comparison of novel Mendelian randomization approaches	28
A proteomics analysis of 5xFAD mouse brain regions reveals the lysosome-associated protein Arl8b as a candidate biomarker for Alzheimer’s disease	28
Intratumor heterogeneity and T cell exhaustion in primary CNS lymphoma	28
Accumulation of copy number alterations and clinical progression across advanced prostate cancer	27
Keeping up with the pathogens: improved antimicrobial resistance detection and prediction from Pseudomonas aeruginosa genomes	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
An expedited screening platform for the discovery of anti-ageing compounds in vitro and in vivo	27
A genome-based survey of invasive pneumococci in Norway over four decades reveals lineage-specific responses to vaccination	26
Microbiota of the prostate tumor environment investigated by whole-transcriptome profiling	26
Non-coding cis-regulatory variants in HK1 cause congenital hyperinsulinism with variable disease severity	26
SARS-CoV-2 population dynamics in immunocompetent individuals in a closed transmission chain shows genomic diversity over the course of infection	26
Molecular-guided therapy for the treatment of patients with relapsed and refractory childhood cancers: a Beat Childhood Cancer Research Consortium trial	25
RNA profiling of blood platelets noninvasively differentiates colorectal cancer from healthy donors and noncancerous intestinal diseases: a retrospective cohort study	25
Molecular characteristics of breast tumors in patients screened for germline predisposition from a population-based observational study	25
Lethal variants in humans: lessons learned from a large molecular autopsy cohort	25
SvAnna: efficient and accurate pathogenicity prediction of coding and regulatory structural variants in long-read genome sequencing	25
Genome-wide identification and characterization of circular RNA m6A modification in pancreatic cancer	25
Therapy sculpts the complex interplay between cancer and the immune system during tumour evolution	24
Penetrance estimation of Alzheimer disease in SORL1 loss-of-function variant carriers using a family-based strategy and stratification by APOE genotypes	24
Clinical implementation of RNA sequencing for Mendelian disease diagnostics	24
Genome Tunisia Project: paving the way for precision medicine in North Africa	24
Defining type 2 diabetes polygenic risk scores through colocalization and network-based clustering of metabolic trait genetic associations	24
De novo transcriptomic subtyping of colorectal cancer liver metastases in the context of tumor heterogeneity	24
Identification of TBX15 as an adipose master trans regulator of abdominal obesity genes	24
Single-cell profiling of response to neoadjuvant chemo-immunotherapy in surgically resectable esophageal squamous cell carcinoma	24
Race-specific coregulatory and transcriptomic profiles associated with DNA methylation and androgen receptor in prostate cancer	23

mRNA-based precision targeting of neoantigens and tumor-associated antigens in malignant brain tumors	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
CRAG: de novo characterization of cell-free DNA fragmentation hotspots in plasma whole-genome sequencing	23
Mutation-Attention (MuAt): deep representation learning of somatic mutations for tumour typing and subtyping	23
Ten-year longitudinal molecular epidemiology study of Escherichia coli and Klebsiella species bloodstream infections in Oxfordshire, UK	23
Correction to: Genome-wide sequencing as a first-tier screening test for short tandem repeat expansions	23
Variation in targetable genomic alterations in non-small cell lung cancer by genetic ancestry, sex, smoking history, and histology	23
The clinical utility of rapid exome sequencing in a consanguineous population	23
Single-cell profiling of human dura and meningioma reveals cellular meningeal landscape and insights into meningioma immune response	23
Predicting MHC-I ligands across alleles and species: how far can we go?	23
We need to bring R0 < 1 to treat cancer too	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	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
Discovering novel germline genetic variants linked to severe fluoropyrimidine-related toxicity in- and outside DPYD	22
Cell-type-specific subtyping of epigenomes improves prognostic stratification of cancer	21
Gut microbial determinants of clinically important improvement in patients with rheumatoid arthritis	21
Intra-patient stability of tumor mutational burden from tissue biopsies at different time points in advanced cancers	21
Integrating single-cell sequencing data with GWAS summary statistics reveals CD16+monocytes and memory CD8+T cells involved in severe COVID-19	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
KleTy: integrated typing scheme for core genome and plasmids reveals repeated emergence of multi-drug resistant epidemic lineages in Klebsiella worldwide	20
Illuminating links between cis-regulators and trans-acting variants in the human prefrontal cortex	20
Spatiotemporal evolution of the clear cell renal cell carcinoma microenvironment links intra-tumoral heterogeneity to immune escape	20
Diagnostic yield of genetic screening in a diverse, community-ascertained cohort	20
Single-cell genomic and transcriptomic landscapes of primary and metastatic colorectal cancer tumors	20
Rare copy-number variants as modulators of common disease susceptibility	20
Genome-wide prediction of pathogenic gain- and loss-of-function variants from ensemble learning of a diverse feature set	19
Systematic analysis of Mendelian disease-associated gene variants reveals new classes of cancer-predisposing genes	19
Single-cell transcriptomics reveals common epithelial response patterns in human acute kidney injury	19
The gut microbiota in multiple sclerosis varies with disease activity	19
Developmental dynamics of voltage-gated sodium channel isoform expression in the human and mouse brain	19
A novel transcriptional signature identifies T-cell infiltration in high-risk paediatric cancer	19
The genetics and epidemiology of N- and O-immunoglobulin A glycomics	19
Automated prioritization of sick newborns for whole genome sequencing using clinical natural language processing and machine learning	19
Early detection of hepatocellular carcinoma via no end-repair enzymatic methylation sequencing of cell-free DNA and pre-trained neural network	19
The genetic case for cardiorespiratory fitness as a clinical vital sign and the routine prescription of physical activity in healthcare	19
Rare subclonal sequencing of breast cancers indicates putative metastatic driver mutations are predominately acquired after dissemination	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
Correction: Rapid molecular diagnostics of tuberculosis resistance by targeted stool sequencing	18
Multi-site tumor sampling highlights molecular intra-tumor heterogeneity in malignant pleural mesothelioma	18
Prostate cancers with distinct transcriptional programs in Black and White men	18
Genomic architecture of autism spectrum disorder in Qatar: The BARAKA-Qatar Study	18
The CXCL16/CXCR6 axis is linked to immune effector cell-associated neurotoxicity in chimeric antigen receptor (CAR) T cell therapy	18
CTpathway: a CrossTalk-based pathway enrichment analysis method for cancer research	17
Molecular profiling of human non-small cell lung cancer by single-cell RNA-seq	17
Mechanistic insights into the interactions between cancer drivers and the tumour immune microenvironment	17
Single-cell analysis of immune and stroma cell remodeling in clear cell renal cell carcinoma primary tumors and bone metastatic lesions	17
Somatic mutational profiles and germline polygenic risk scores in human cancer	17
Bi-allelic variants in BRF2 are associated with perinatal death and craniofacial anomalies	17
Genomic surveillance of multidrug-resistant organisms based on long-read sequencing	17
PhenoDP: leveraging deep learning for phenotype-based case reporting, disease ranking, and symptom recommendation	16
Preventing disease progression in multiple sclerosis—insights from large real-world cohorts	16
Transcriptional signals of transformation in human cancer	16
RNA polymerase I is essential for driving the formation of 3D genome in early embryonic development in mouse, but not in human	16
Spatially resolved transcriptomic profiles reveal unique defining molecular features of infiltrative 5ALA-metabolizing cells associated with glioblastoma recurrence	16
Development and validation of a trans-ancestry polygenic risk score for type 2 diabetes in diverse populations	16
A single-cell atlas of Schwannoma across genetic backgrounds and anatomic locations	16
An atlas of cell-type-specific interactome networks across 44 human tumor types	16
Unsupervised spatially embedded deep representation of spatial transcriptomics	16
Sequencing individual genomes with recurrent genomic disorder deletions: an approach to characterize genes for autosomal recessive rare disease traits	16
Tumor microenvironment remodeling after neoadjuvant immunotherapy in non-small cell lung cancer revealed by single-cell RNA sequencing	16
Associations between HLA-II variation and antibody specificity are predicted by antigen properties	15
Structural variant allelic heterogeneity in MECP2 duplication syndrome provides insight into clinical severity and variability of disease expression	15
Distinct signatures of codon and codon pair usage in 32 primary tumor types in the novel database CancerCoCoPUTs for cancer-specific codon usage	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
Comprehensive de novo mutation discovery with HiFi long-read sequencing	15
STRchive: a dynamic resource detailing population-level and locus-specific insights at tandem repeat disease loci	15
Adipose methylome integrative-omic analyses reveal genetic and dietary metabolic health drivers and insulin resistance classifiers	15
Pre-operative clonal hematopoiesis is related to adverse outcome in lung cancer after adjuvant therapy	15
High level of complexity and global diversity of the 3q29 locus revealed by optical mapping and long-read sequencing	15
Structural variants linked to Alzheimer’s disease and other common age-related clinical and neuropathologic traits	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
Combining chromosome conformation capture and exome sequencing for simultaneous detection of structural and single-nucleotide variants	14
Whole genome sequencing of 378 prostate cancer metastases reveals tissue selectivity for mismatch deficiency with potential therapeutic implications	14
The genomic architecture of EBV and infected gastric tissue from precursor lesions to carcinoma	14
Phylogenomic insights into evolutionary trajectories of multidrug resistant S. pneumoniae CC271 over a period of 14 years in China	14
Genome-wide interrogation of structural variation reveals novel African-specific prostate cancer oncogenic drivers	14
scDrugPrio: a framework for the analysis of single-cell transcriptomics to address multiple problems in precision medicine in immune-mediated inflammatory diseases	14
Systematic analysis of genetic and phenotypic characteristics reveals antisense oligonucleotide therapy potential for one-third of neurodevelopmental disorders	13
Epigenetic timing effects on child developmental outcomes: a longitudinal meta-regression of findings from the Pregnancy And Childhood Epigenetics Consortium	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
Insertion sequences accelerate genomic convergence of multidrug resistance and hypervirulence in Klebsiella pneumoniae via capsular phase variation	13
Longitudinal multi-omics analysis identifies early blood-based predictors of anti-TNF therapy response in inflammatory bowel disease	13
A tool for CRISPR-Cas9 sgRNA evaluation based on computational models of gene expression	13
Genetic constraint at single amino acid resolution in protein domains improves missense variant prioritisation and gene discovery	13
Reanalysis of exome negative patients with rare disease: a pragmatic workflow for diagnostic applications	13
Genome-wide sequencing as a first-tier screening test for short tandem repeat expansions	13
Sequence dependencies and mutation rates of localized mutational processes in cancer	12
Clustering of predicted loss-of-function variants in genes linked with monogenic disease can explain incomplete penetrance	12
Evaluating metagenomics and targeted approaches for diagnosis and surveillance of viruses	12
Identification of novel genetic risk factors of dilated cardiomyopathy: from canine to human	12
Genomic medicine in the Middle East	12