Nature Genetics

Article	Citations
A versatile functional assay for genetic variants in human disease	1180
Skip to the end: metastasis before tumorigenesis	1084
Extreme conservation encodes the structural dynamics and function of 5′ UTRs	906
Adaptation to nitrogen	861
Deciphering the evolutionary dynamics of extrachromosomal DNA in human cancer	831
Improved pathogenicity prediction using primate genomics	796
An atlas of mitochondrial DNA genotype–phenotype associations in the UK Biobank	750
Single-nucleotide-level mapping of DNA regulatory elements that control fetal hemoglobin expression	646
Integrated single-cell chromatin and transcriptomic analyses of human scalp identify gene-regulatory programs and critical cell types for hair and skin diseases	611
Crosstalk between RNA m6A and DNA methylation regulates transposable element chromatin activation and cell fate in human pluripotent stem cells	447
Separating measurement and expression models clarifies confusion in single-cell RNA sequencing analysis	404
Harnessing clonal gametes in hybrid crops to engineer polyploid genomes	399
The homeobox transcription factor DUXBL controls exit from totipotency	394
Chromosome evolution screens recapitulate tissue-specific tumor aneuploidy patterns	375
Calling SNVs in single cells	371
Neuronal chromatin meta-domains	344
High-resolution genome-wide mapping of chromosome-arm-scale truncations induced by CRISPR–Cas9 editing	340
sortChIC enables detailed chromatin analysis of rare cell types	326
A scalable technology for measuring cell-type-specific activity of cis-regulatory sequences	322
Ultraconservation of enhancers is not ultranecessary	315
Quantifying fitness effects and mutation rates of mCAs in blood	313
Linking non-coding variants to function in microglia in Alzheimer’s disease	308
Inferring phylogenies from pandemic-scale genome datasets	305
Prevalent putative chromatin bivalency and partial resetting of H3K27me3 in plant sperm	285
Rare-variant genetic architecture	284

Identifying critical cell types and gene regulatory pathways for hair and skin disease	284
Proteogenomic insights into early-onset endometrioid endometrial carcinoma: predictors for fertility-sparing therapy response	269
Role of gene–gene loops in fine-tuning cross-regulation	262
Implementing polygenic risk scores in the clinic	249
Metastable epialleles are stable in their instability	239
Translating amyotrophic lateral sclerosis genes into drug development leads	237
Connecting clinical and genetic heterogeneity in ADHD	234
Genetic architecture of cardiac dynamic flow volumes	230
Saturation genome editing maps the functional spectrum of pathogenic VHL alleles	221
Temperature-induced RNA recoding in octopus	220
Mapping dog behavior	215
The evolving cancer genome	203
The genomic and spatial mobility of extrachromosomal DNA and its implications for cancer therapy	201
Genetic mapping across autoimmune diseases reveals shared associations and mechanisms	194
Transposition enables low-input single-molecule concurrent genomics and epigenomics	189
Chromatin modifications integrate cis genomic context to instruct transcriptional outputs	188
A chromatin-regulated biphasic circuit coordinates IL-1β-mediated inflammation	188
Immune disease risk variants regulate gene expression dynamics during CD4+ T cell activation	187
Studying the genetics of participation using footprints left on the ascertained genotypes	187
A mass balance principle for finding loose ends in cancer genomes	185
Functional landscapes of POLE and POLD1 mutations in checkpoint blockade-dependent antitumor immunity	185
Epigenetic memory in 3D	184
Integration of genetic data with dynamic gene regulatory elements identifies autoimmune effector cell states	184
Rewriting the mammalian genome, one locus at a time	184
Automated sequence-based annotation and interpretation of the human genome	183
African-ancestry-associated genomic differences in cancer	182
Identifying individuals at extreme risk of venous thromboembolism using polygenic risk scores	175
Problems with dystopian representations in genetic futurism	175
A new method for multiancestry polygenic prediction improves performance across diverse populations	174
Stepwise de novo establishment of inactive X chromosome architecture in early development	170
Personalizing pangenome graphs with k-mers	165
Context-specific targeting of the androgen receptor in prostate cancer	157
Widespread position-dependent transcriptional regulatory sequences in plants	157
MHC Hammer reveals genetic and non-genetic HLA disruption in cancer evolution	154
Identifying type 2 diabetes risk genes by β-cell CRISPR screening	152
Identifying genetic subtypes of disease from hospital diagnosis records	151
An integrated single-cell reference atlas of the human endometrium	147
A call for spatial omics submissions	147
Rare coding variant analysis for human diseases across biobanks and ancestries	146
Epigenetic therapy potentiates transposable element transcription to create tumor-enriched antigens in glioblastoma cells	144
TP53-dependent genomic instability	141
Harnessing cancer genomes for precision oncology	141
Noncoding mutations cause super-enhancer retargeting resulting in protein synthesis dysregulation during B cell lymphoma progression	140
Tomato super-pangenome highlights the potential use of wild relatives in tomato breeding	139
Machine learning drives genetic discovery for binge eating disorder	136
Perturbational phenotyping of human blood cells reveals genetically determined latent traits associated with subsets of common diseases	135
Understanding liver repair through space and time	134
Finding hidden treasures in summary statistics from genome-wide association studies	134
How transposable elements are spliced out	134
SMARCE1 deficiency generates a targetable mSWI/SNF dependency in clear cell meningioma	128

Somatic mutations of GNA11 and GNAQ in CTNNB1-mutant aldosterone-producing adenomas presenting in puberty, pregnancy or menopause	127
Disentangling extrachromosomal circular DNA heterogeneity in single cells with scEC&T-seq	126
In vivo screening characterizes chromatin factor functions during normal and malignant hematopoiesis	125
A plasma membrane transporter coordinates phosphate reallocation and grain filling in cereals	125
DRAGEN optimizes genomic variant detection	125
Comprehensive characterization of protein–protein interactions perturbed by disease mutations	125
Chromothripsis as an on-target consequence of CRISPR–Cas9 genome editing	123
A high-quality genome assembly highlights rye genomic characteristics and agronomically important genes	123
Multi-ancestry genome-wide study identifies effector genes and druggable pathways for coronary artery calcification	122
A combinatorial genetic strategy for exploring complex genotype–phenotype associations in cancer	122
Integrative functional genomic analyses identify genetic variants influencing skin pigmentation in Africans	121
Metagenomics of the human gut mycobiome	120
Library size normalization affects spatial domain identification	119
NECTIN1 is a melanoma metastasis suppressor gene	117
Functional dissection of human cardiac enhancers and noncoding de novo variants in congenital heart disease	116
An atlas of genetic determinants of forearm fracture	115
Functional characterization of Alzheimer’s disease genetic variants in microglia	114
Systematic rare variant analyses identify RAB32 as a susceptibility gene for familial Parkinson’s disease	114
Accurate rare variant phasing of whole-genome and whole-exome sequencing data in the UK Biobank	114
G6PD deficiency and diabetes complications	113
Retrotransposon activation during Drosophila metamorphosis conditions adult antiviral responses	113
Inseparable RNA binding and chromatin modification activities of a nucleosome-interacting surface in EZH2	113
RNU4-2 variants cause neurodevelopmental disorders	111
Chromosome organization from the Ice Age	110
Single-cell technologies meet Hi-C	110
Mitochondrial DNA mosaicism in normal human somatic cells	109
Mobile element insertions affect human pigmentation and skin cancer risk	109
Integrated analyses highlight interactions between the three-dimensional genome and DNA, RNA and epigenomic alterations in metastatic prostate cancer	109
GeneMAP enables discovery of metabolic gene function	108
The NALCN channel regulates metastasis and nonmalignant cell dissemination	106
Biallelic mutations in cancer genomes reveal local mutational determinants	106
Primate-specific ZNF808 is essential for pancreatic development in humans	104
Chromatin openness requires continuous SWI/SNF activity	104
Integrative common and rare variant analyses provide insights into the genetic architecture of liver cirrhosis	102
Single-cell sortChIC identifies hierarchical chromatin dynamics during hematopoiesis	102
Single-mitosis dissection of acute and chronic DNA mutagenesis and repair	102
Optimizing combination immunotherapy in lung cancer	100
Genetic architecture reconciles linkage and association studies of complex traits	100
Obesity-dependent selection of driver mutations in cancer	100
CellCharter reveals spatial cell niches associated with tissue remodeling and cell plasticity	100
Genetics and dietary restriction impact lifespan	99
Multiomic profiling identifies predictors of survival in African American patients with acute myeloid leukemia	97
Multivariate genomic analysis of 5 million people elucidates the genetic architecture of shared components of the metabolic syndrome	97
DNA polymerase ε produces elevated C-to-T mutations at methylated CpG dinucleotides	96
Circular extrachromosomal DNA promotes tumor heterogeneity in high-risk medulloblastoma	95
In vitro reconstitution of chromatin domains shows a role for nucleosome positioning in 3D genome organization	95
Using advanced spatial and single-cell transcriptomics to characterize the human endometrium	94
Neuroblastoma arises in early fetal development and its evolutionary duration predicts outcome	94
Mapping the temporal and spatial dynamics of the human endometrium in vivo and in vitro	92
Mendelian randomization analyses support causal relationships between blood metabolites and the gut microbiome	92
Two divergent haplotypes from a highly heterozygous lychee genome suggest independent domestication events for early and late-maturing cultivars	91
Distinct and shared genetic architectures of gestational diabetes mellitus and type 2 diabetes	91
Improving polygenic prediction in ancestrally diverse populations	91
Increased enhancer–promoter interactions during developmental enhancer activation in mammals	90
Genome-wide association analyses identify 95 risk loci and provide insights into the neurobiology of post-traumatic stress disorder	89
Pangenomic analysis identifies structural variation associated with heat tolerance in pearl millet	88
Genome-wide analysis provides genetic evidence that ACE2 influences COVID-19 risk and yields risk scores associated with severe disease	88
Genetic correlates of phenotypic heterogeneity in autism	88
Leveraging polygenic enrichments of gene features to predict genes underlying complex traits and diseases	88
Brain expression quantitative trait locus and network analyses reveal downstream effects and putative drivers for brain-related diseases	88
The BAF chromatin remodeler synergizes with RNA polymerase II and transcription factors to evict nucleosomes	87
Polygenic prediction of educational attainment within and between families from genome-wide association analyses in 3 million individuals	87
Dynamics of DNA hydroxymethylation and methylation during mouse embryonic and germline development	86
Multi-ancestry genome-wide association meta-analysis of Parkinson’s disease	86
The landscape of tumor cell states and spatial organization in H3-K27M mutant diffuse midline glioma across age and location	85
YAP induces an oncogenic transcriptional program through TET1-mediated epigenetic remodeling in liver growth and tumorigenesis	85
Pan-transcriptome reveals a large accessory genome contribution to gene expression variation in yeast	85
Molecular basis for maternal inheritance of human mitochondrial DNA	84
Long-read sequencing of 3,622 Icelanders provides insight into the role of structural variants in human diseases and other traits	84
Multimodal single-cell and whole-genome sequencing of small, frozen clinical specimens	83
Rare coding variants in CHRNB2 reduce the likelihood of smoking	82
Genome-wide RNA polymerase stalling shapes the transcriptome during aging	82
Variation in TaSPL6-D confers salinity tolerance in bread wheat by activating TaHKT1;5-D while preserving yield-related traits	82
Mismatch repair deficiency is not sufficient to elicit tumor immunogenicity	81
Reactivation of embryonic genetic programs in tissue regeneration and disease	81
Integrating genetics with single-cell multiomic measurements across disease states identifies mechanisms of beta cell dysfunction in type 2 diabetes	81
A genome-wide CRISPR screen identifies CALCOCO2 as a regulator of beta cell function influencing type 2 diabetes risk	81
H2AK119ub1 guides maternal inheritance and zygotic deposition of H3K27me3 in mouse embryos	80
BRD2 compartmentalizes the accessible genome	80
Structure and function of rice hybrid genomes reveal genetic basis and optimal performance of heterosis	79

Cellular plasticity of the bone marrow niche promotes hematopoietic stem cell regeneration	78
Complex synthetic lethality in cancer	78
Ten challenges for clinical translation in psychiatric genetics	78
Renal plasticity revealed through reversal of polycystic kidney disease in mice	78
Deciphering single-cell transcriptional programs across species	77
Adult human kidney organoids originate from CD24+ cells and represent an advanced model for adult polycystic kidney disease	77
Genome-wide analysis of 102,084 migraine cases identifies 123 risk loci and subtype-specific risk alleles	76
Single-cell transcriptomic analyses provide insights into the developmental origins of neuroblastoma	76
Systematic reconstruction of cellular trajectories across mouse embryogenesis	75
Mutational signatures in esophageal squamous cell carcinoma from eight countries with varying incidence	75
Paralog knockout profiling identifies DUSP4 and DUSP6 as a digenic dependence in MAPK pathway-driven cancers	75
Cohesin maintains replication timing to suppress DNA damage on cancer genes	74
Multiomic analysis of malignant pleural mesothelioma identifies molecular axes and specialized tumor profiles driving intertumor heterogeneity	74
Genome-wide association study of more than 40,000 bipolar disorder cases provides new insights into the underlying biology	74
Assessing the contribution of rare variants to complex trait heritability from whole-genome sequence data	74
Genetic and spatial organization of the unusual chromosomes of the dinoflagellate Symbiodinium microadriaticum	74
Single-cell analyses define a continuum of cell state and composition changes in the malignant transformation of polyps to colorectal cancer	73
A multiancestry genome-wide association study of unexplained chronic ALT elevation as a proxy for nonalcoholic fatty liver disease with histological and radiological validation	73
Genetic determinants of chromatin reveal prostate cancer risk mediated by context-dependent gene regulation	73
A modified fluctuation-test framework characterizes the population dynamics and mutation rate of colorectal cancer persister cells	71
DeepSTARR predicts enhancer activity from DNA sequence and enables the de novo design of synthetic enhancers	71
Shared heritability of human face and brain shape	71
Genome-wide meta-analysis of insomnia prioritizes genes associated with metabolic and psychiatric pathways	71
Base editing screens define the genetic landscape of cancer drug resistance mechanisms	70
Cell subtype-specific effects of genetic variation in the Alzheimer’s disease brain	70
Pangenome analysis reveals genomic variations associated with domestication traits in broomcorn millet	69
Single-nucleus chromatin accessibility profiling highlights regulatory mechanisms of coronary artery disease risk	68
Benchmarking of deep neural networks for predicting personal gene expression from DNA sequence highlights shortcomings	68
Author Correction: Bipotent transitional liver progenitor cells contribute to liver regeneration	68
Promoting equity in polygenic risk assessment through global collaboration	68
Cicer super-pangenome provides insights into species evolution and agronomic trait loci for crop improvement in chickpea	68
Author Correction: Genetic effects on the timing of parturition and links to fetal birth weight	67
Author Correction: From Mendel to quantitative genetics in the genome era: the scientific legacy of W. G. Hill	67
Publisher Correction: Discovery of rare variants associated with blood pressure regulation through meta-analysis of 1.3 million individuals	67
Author Correction: Transcription factor competition at the γ-globin promoters controls hemoglobin switching	66
Author Correction: Genetics of 35 blood and urine biomarkers in the UK Biobank	66
Author Correction: Multi-ancestry genome-wide association analyses improve resolution of genes and pathways influencing lung function and chronic obstructive pulmonary disease risk	66
Publisher Correction: Epigenomic contributions to tumor cell heterogeneity and plasticity	66
A cautionary tale for Alzheimer’s disease GWAS by proxy	65
Toward advances in retinoblastoma genetics in Kenya	65
Split-pool barcoding serves up an epigenomic smorgasbord	65
Author Correction: Deciphering colorectal cancer genetics through multi-omic analysis of 100,204 cases and 154,587 controls of European and east Asian ancestries	65
Genetic effects on the timing of parturition and links to fetal birth weight	64
Origin and evolution of the triploid cultivated banana genome	64
Toward GDPR compliance with the Helmholtz Munich genotype imputation server	64
Gain-of-function variants in SYK cause immune dysregulation and systemic inflammation in humans and mice	63
From Mendel to quantitative genetics in the genome era: the scientific legacy of W. G. Hill	63
PHYTOCHROME-INTERACTING FACTORs trigger environmentally responsive chromatin dynamics in plants	62
Thymidine nucleotide metabolism controls human telomere length	61
Human–chimpanzee fused cells reveal cis-regulatory divergence underlying skeletal evolution	61
Author Correction: Mutations in PYCR1 cause cutis laxa with progeroid features	60
Publisher Correction: Reference component analysis of single-cell transcriptomes elucidates cellular heterogeneity in human colorectal tumors	60
LINE-1 transcription activates long-range gene expression	59
Brca1 haploinsufficiency promotes early tumor onset and epigenetic alterations in a mouse model of hereditary breast cancer	59
GATTACA is still pertinent 25 years later	59
Genome-wide association analysis provides insights into the molecular etiology of dilated cardiomyopathy	59
Combined effects of host genetics and diet on human gut microbiota and incident disease in a single population cohort	59
Coupling metabolomics and exome sequencing reveals graded effects of rare damaging heterozygous variants on gene function and human traits	58
Brain metastasis prediction	58
Blood DNA virome associates with autoimmune diseases and COVID-19	57
Comprehensive genomic characterization of early-stage bladder cancer	56
Characterizing the evolutionary dynamics of cancer proliferation in single-cell clones with SPRINTER	56
Telomere-to-telomere sheep genome assembly identifies variants associated with wool fineness	56
The NAT1–bHLH110–CER1/CER1L module regulates heat stress tolerance in rice	55
Single-cell multimodal glioma analyses identify epigenetic regulators of cellular plasticity and environmental stress response	55
Pangenome graphs and their applications in biodiversity genomics	55
Recent ultra-rare inherited variants implicate new autism candidate risk genes	55
Discovering missing heritability in whole-genome sequencing data	55
Identification of shared and differentiating genetic architecture for autism spectrum disorder, attention-deficit hyperactivity disorder and case subgroups	55
Cellular neighborhood analysis in spatial omics reveals new tissue domains and cell subtypes	54
HLA autoimmune risk alleles restrict the hypervariable region of T cell receptors	54
Implicating XIST in sex-biased autoimmunity	54
Establishing African genomics and bioinformatics programs through annual regional workshops	54
Shedding light on the genetics of fetal growth	54
Single-cell multiomic analyses sheds light on mitochondrial mutational selection	54
Single-cell genome sequencing of human neurons identifies somatic point mutation and indel enrichment in regulatory elements	54
Structural variations fine-tune gene expression to steer Brassica oleracea diversification	53
Improved identification of cancer mutational processes	53
Mapping the regulators of key immune genes and disease networks	52
Machine learning to examine the genetic underpinnings of cardiac fibrosis at scale	52
Transient activated fibroblasts contribute to zebrafish heart regeneration	52
Code deposition is unskippable	52
Our genes, our microbes	52
Genetic associations of human metabolic traits	51
CRISPR–Cas9 can cause chromothripsis	51
Unexpected heterogeneity in oropharyngeal squamous cell tumors	51
When RNA methylation meets DNA methylation	51
Gene therapy for Parkinson’s disease models	51
Population-level variation in enhancer expression identifies disease mechanisms in the human brain	51
Embracing communication	50
Loss of FOCAD, operating via the SKI messenger RNA surveillance pathway, causes a pediatric syndrome with liver cirrhosis	50
Mouse embryonic development requires transposable element expression	50
Transitioning cancer cells and the surrounding tumor environment in pancreatic cancer	49
A GGC-repeat expansion in ZFHX3 encoding polyglycine causes spinocerebellar ataxia type 4 and impairs autophagy	49
On powerful GWAS in admixed populations	48