| Tumor mutational load predicts survival after immunotherapy across multiple cancer types |
423 |
| Genome-wide polygenic scores for common diseases identify individuals with risk equivalent to monogenic mutations |
303 |
| Genome-wide association analyses identify 44 risk variants and refine the genetic architecture of major depression |
288 |
| Genetic meta-analysis of diagnosed Alzheimer's disease identifies new risk loci and implicates A beta, tau, immunity and lipid processing |
266 |
| Genome-wide meta-analysis identifies new loci and functional pathways influencing Alzheimer's disease risk |
227 |
| Discovery of the first genome-wide significant risk loci for attention deficit/hyperactivity disorder |
216 |
| Gene discovery and polygenic prediction from a genome-wide association study of educational attainment in 1.1 million individuals |
204 |
| Detection of widespread horizontal pleiotropy in causal relationships inferred from Mendelian randomization between complex traits and diseases |
204 |
| Clinical use of current polygenic risk scores may exacerbate health disparities |
187 |
| Identification of common genetic risk variants for autism spectrum disorder |
185 |
| Fine-mapping type 2 diabetes loci to single-variant resolution using high-density imputation and islet-specific epigenome maps |
184 |
| Common schizophrenia alleles are enriched in mutation-intolerant genes and in regions under strong background selection |
174 |
| Genome-wide association study identifies 30 loci associated with bipolar disorder |
172 |
| Association studies of up to 1.2 million individuals yield new insights into the genetic etiology of tobacco and alcohol use |
123 |
| Multiancestry genome-wide association study of 000 subjects identifies 32 loci associated with stroke and stroke subtypes |
121 |
| Long noncoding RNA MALAT1 suppresses breast cancer metastasis |
119 |
| Genome-wide association meta-analysis in 867 individuals identifies new genetic and functional links to intelligence |
105 |
| The long tail of oncogenic drivers in prostate cancer |
104 |
| Causal relationships among the gut microbiome, short-chain fatty acids and metabolic diseases |
103 |
| Genetic analysis of over 1 million people identifies 535 new loci associated with blood pressure traits |
101 |
| Durum wheat genome highlights past domestication signatures and future improvement targets |
90 |
| Multi-ethnic genome-wide association study for atrial fibrillation |
88 |
| Heritability enrichment of specifically expressed genes identifies disease-relevant tissues and cell types |
85 |
| An atlas of genetic influences on osteoporosis in humans and mice |
85 |
| Genome-wide association study identifies eight risk loci and implicates metabo-psychiatric origins for anorexia nervosa |
85 |
| Association analyses of more than 000 men identify 63 new prostate cancer susceptibility loci |
84 |
| Genetics of blood lipids among similar to 000 multi-ethnic participants of the Million Veteran Program |
78 |
| An atlas of genetic associations in UK Biobank |
78 |
| Gossypium barbadense and Gossypium hirsutum genomes provide insights into the origin and evolution of allotetraploid cotton |
76 |
| Opportunities and challenges for transcriptome-wide association studies |
76 |
| Genetic analysis of quantitative traits in the Japanese population links cell types to complex human diseases |
75 |
| The fecal metabolome as a functional readout of the gut microbiome |
75 |
| A primer on deep learning in genomics |
74 |
| Pan-genome analysis highlights the extent of genomic variation in cultivated and wild rice |
74 |
| Reference genome sequences of two cultivated allotetraploid cottons, Gossypium hirsutum and Gossypium barbadense |
74 |
| Quantitative evidence for early metastatic seeding in colorectal cancer |
71 |
| Genetic identification of brain cell types underlying schizophrenia |
71 |
| Origin and evolution of the octoploid strawberry genome |
69 |
| Genomic correlates of response to immune checkpoint blockade in microsatellite-stable solid tumors |
69 |
| Multi-trait analysis of genome-wide association summary statistics using MTAG |
67 |
| A global overview of pleiotropy and genetic architecture in complex traits |
66 |
| Molecular landmarks of tumor hypoxia across cancer types |
66 |
| Using an atlas of gene regulation across 44 human tissues to inform complex disease- and trait-associated variation |
66 |
| Genome-wide analysis of insomnia in 010 individuals identifies new risk loci and functional pathways |
63 |
| Discovery of common and rare genetic risk variants for colorectal cancer |
63 |
| Biobank-driven genomic discovery yields new insight into atrial fibrillation biology |
63 |
| Allele-defined genome of the autopolyploid sugarcane Saccharum spontaneum L. |
62 |
| The tomato pan-genome uncovers new genes and a rare allele regulating fruit flavor |
61 |
| High-throughput single-cell ChIP-seq identifies heterogeneity of chromatin states in breast cancer |
61 |
| Meta-analysis of genome-wide association studies for neuroticism in 484 individuals identifies novel genetic loci and pathways |
61 |
| Resequencing of 243 diploid cotton accessions based on an updated A genome identifies the genetic basis of key agronomic traits |
60 |
| Genomic features of bacterial adaptation to plants |
59 |
| Refining the accuracy of validated target identification through coding variant fine-mapping in type 2 diabetes |
58 |
| Long-read sequencing identifies GGC repeat expansions in NOTCH2NLC associated with neuronal intranuclear inclusion disease |
57 |
| The genome sequence of segmental allotetraploid peanut Arachis hypogaea |
57 |
| Genomes of 13 domesticated and wild rice relatives highlight genetic conservation, turnover and innovation across the genus Oryza |
56 |
| A catalog of genetic loci associated with kidney function from analyses of a million individuals |
55 |
| Genome doubling shapes the evolution and prognosis of advanced cancers |
55 |
| The genome of cultivated peanut provides insight into legume karyotypes, polyploid evolution and crop domestication |
55 |
| Efficiently controlling for case-control imbalance and sample relatedness in large-scale genetic association studies |
53 |
| Maternal and fetal genetic effects on birth weight and their relevance to cardio-metabolic risk factors |
53 |
| Multiancestry association study identifies new asthma risk loci that colocalize with immune-cell enhancer marks |
52 |
| Biallelic expansion of an intronic repeat in RFC1 is a common cause of late-onset ataxia |
51 |
| Genome-wide association analyses of risk tolerance and risky behaviors in over 1 million individuals identify hundreds of loci and shared genetic influences |
51 |
| Extensive intraspecific gene order and gene structural variations between Mo17 and other maize genomes |
51 |
| A deletion mutation in TaHRC confers Fhb1 resistance to Fusarium head blight in wheat |
50 |
| Activity-by-contact model of enhancer-promoter regulation from thousands of CRISPR perturbations |
48 |
| Resequencing a core collection of upland cotton identifies genomic variation and loci influencing fiber quality and yield |
48 |
| Mutational processes shape the landscape of TP53 mutations in human cancer |
48 |
| PAX5-driven subtypes of B-progenitor acute lymphoblastic leukemia |
47 |
| Highly rearranged chromosomes reveal uncoupling between genome topology and gene expression |
47 |
| Functional dissection of the Sox9-Kcnj2 locus identifies nonessential and instructive roles of TAD architecture |
47 |
| Comparative genetic architectures of schizophrenia in East Asian and European populations |
47 |
| The sea lamprey germline genome provides insights into programmed genome rearrangement and vertebrate evolution |
46 |
| Comparative genomics of the major parasitic worms |
46 |
| Genebank genomics highlights the diversity of a global barley collection |
46 |
| Lung regeneration by multipotent stem cells residing at the bronchioalveolar-duct junction |
46 |
| Protein-altering variants associated with body mass index implicate pathways that control energy intake and expenditure in obesity |
46 |
| De novo variants in neurodevelopmental disorders with epilepsy |
45 |
| Noncoding CGG repeat expansions in neuronal intranuclear inclusion disease, oculopharyngodistal myopathy and an overlapping disease |
45 |
| Quantification of subclonal selection in cancer from bulk sequencing data |
44 |
| Transcriptome-wide association study of schizophrenia and chromatin activity yields mechanistic disease insights |
44 |
| Meta-analysis of genome-wide association studies for cattle stature identifies common genes that regulate body size in mammals |
44 |
| Mitochondrial genetic medicine |
44 |
| An aberrant SREBP-dependent lipogenic program promotes metastatic prostate cancer |
43 |
| Dynamic interplay between enhancer-promoter topology and gene activity |
43 |
| Deep learning sequence-based ab initio prediction of variant effects on expression and disease risk |
42 |
| Assembly of a pan-genome from deep sequencing of 910 humans of African descent |
42 |
| Expansions of intronic TTTCA and TTTTA repeats in benign adult familial myoclonic epilepsy |
42 |
| Multiplex assessment of protein variant abundance by massively parallel sequencing |
41 |
| A reference genome for pea provides insight into legume genome evolution |
40 |
| Integrative detection and analysis of structural variation in cancer genomes |
40 |
| Mutation of a histidine-rich calcium-binding-protein gene in wheat confers resistance to Fusarium head blight |
40 |
| Association analysis in over 000 individuals identifies 116 independent variants influencing neuroticism |
40 |
| New genetic signals for lung function highlight pathways and chronic obstructive pulmonary disease associations across multiple ancestries |
39 |
| The Rosa genome provides new insights into the domestication of modern roses |
39 |
| Identification of new therapeutic targets for osteoarthritis through genome-wide analyses of UK Biobank data |
39 |
| Predicting the clinical impact of human mutation with deep neural networks |
38 |
| Analysis of the androgen receptor-regulated lncRNA landscape identifies a role for ARLNC1 in prostate cancer progression |
38 |
| Annotation-free quantification of RNA splicing using LeafCutter |
37 |
| Single-cell DNA methylome sequencing of human preimplantation embryos |
37 |
| Neurodevelopmental disease genes implicated by de novo mutation and copy number variation morbidity |
37 |
| Genome-wide analyses identify 68 new loci associated with intraocular pressure and improve risk prediction for primary open-angle glaucoma |
37 |
| Single-cell RNA sequencing identifies celltype-specific cis-eQTLs and co-expression QTLs |
37 |
| Acquired HER2 mutations in ER+ metastatic breast cancer confer resistance to estrogen receptor-directed therapies |
37 |
| Natural regulatory mutations elevate the fetal globin gene via disruption of BCL11A or ZBTB7A binding |
36 |
| The genomic landscape of metastatic breast cancer highlights changes in mutation and signature frequencies |
35 |
| A large electronic-health-record-based genome-wide study of serum lipids |
35 |
| Sequencing of prostate cancers identifies new cancer genes, routes of progression and drug targets |
35 |
| Gene expression imputation across multiple brain regions provides insights into schizophrenia risk |
35 |
| Trans-ethnic association study of blood pressure determinants in over 000 individuals |
35 |
| Modified penetrance of coding variants by cis-regulatory variation contributes to disease risk |
34 |
| Integrative transcriptome analyses of the aging brain implicate altered splicing in Alzheimer's disease susceptibility |
34 |
| Sixteen diverse laboratory mouse reference genomes define strain-specific haplotypes and novel functional loci |
34 |
| Retinal transcriptome and eQTL analyses identify genes associated with age-related macular degeneration |
34 |
| Genome-wide analysis of multi- and extensively drug-resistant Mycobacterium tuberculosis |
33 |
| Immune genes are primed for robust transcription by proximal long noncoding RNAs located in nuclear compartments |
33 |
| Exome sequencing highlights the role of wild-relative introgression in shaping the adaptive landscape of the wheat genome |
33 |
| Copy number signatures and mutational processes in ovarian carcinoma |
33 |
| Enhancer hubs and loop collisions identified from single-allele topologies |
32 |
| CRISPR-Cas9 genome editing in human cells occurs via the Fanconi anemia pathway |
32 |
| Tracing the ancestry of modern bread wheats |
32 |
| Improving grain yield, stress resilience and quality of bread wheat using large-scale genomics |
32 |
| Functional classification of long non-coding RNAs by k-mer content |
32 |
| Pharmacogenomic landscape of patient-derived tumor cells informs precision oncology therapy |
32 |
| An analytical framework for whole-genome sequence association studies and its implications for autism spectrum disorder |
32 |
| TET proteins safeguard bivalent promoters from de novo methylation in human embryonic stem cells |
32 |
| Genetic landscape of chronic obstructive pulmonary disease identifies heterogeneous cell-type and phenotype associations |
31 |
| Single-cell and single-molecule epigenomics to uncover genome regulation at unprecedented resolution |
31 |
| Genome-wide association meta-analysis highlights light-induced signaling as a driver for refractive error |
31 |
| A statistical framework for cross-tissue transcriptome-wide association analysis |
31 |
| Parallel selection on a dormancy gene during domestication of crops from multiple families |
31 |
| DNA methylation loss in late-replicating domains is linked to mitotic cell division |
31 |
| CRISPR-Cas9 screens in human cells and primary neurons identify modifiers of C9ORF72 dipeptide-repeat-protein toxicity |
31 |
| Estimation of complex effect-size distributions using summary-level statistics from genome-wide association studies across 32 complex traits |
31 |
| Resequencing of 429 chickpea accessions from 45 countries provides insights into genome diversity, domestication and agronomic traits |
31 |
| Synergistic effects of common schizophrenia risk variants |
30 |
| Genome-wide analyses using UK Biobank data provide insights into the genetic architecture of osteoarthritis |
30 |
| Biological and clinical insights from genetics of insomnia symptoms |
30 |
| Discordant inheritance of chromosomal and extrachromosomal DNA elements contributes to dynamic disease evolution in glioblastoma |
30 |
| Whole-genome deep-learning analysis identifies contribution of noncoding mutations to autism risk |
30 |
| Transposable elements drive widespread expression of oncogenes in human cancers |
29 |
| Chromosome segregation errors generate a diverse spectrum of simple and complex genomic rearrangements |
29 |
| Transcription factors orchestrate dynamic interplay between genome topology and gene regulation during cell reprogramming |
29 |
| A map of constrained coding regions in the human genome |
29 |
| Investigation of inter- and intraspecies variation through genome sequencing of Aspergillus section Nigri |
29 |
| SumHer better estimates the SNP heritability of complex traits from summary statistics |
29 |
| Ongoing chromosomal instability and karyotype evolution in human colorectal cancer organoids |
28 |
| 3' UTR shortening represses tumor-suppressor genes in trans by disrupting ceRNA crosstalk |
28 |
| Target genes, variants, tissues and transcriptional pathways influencing human serum urate levels |
28 |
| Transcriptionally active HERV-H retrotransposons demarcate topologically associating domains in human pluripotent stem cells |
28 |
| Krebs-cycle-deficient hereditary cancer syndromes are defined by defects in homologous-recombination DNA repair |
28 |
| Genome-wide association study of intraocular pressure uncovers new pathways to glaucoma |
28 |
| A compendium of promoter-centered long-range chromatin interactions in the human genome |
28 |
| Human pancreatic islet three-dimensional chromatin architecture provides insights into the genetics of type 2 diabetes |
28 |
| Transcription factors operate across disease loci, with EBNA2 implicated in autoimmunity |
28 |
| Wheat receptor-kinase-like protein Stb6 controls gene-for-gene resistance to fungal pathogen Zymoseptoria tritici |
27 |
| Shared genetic effects on chromatin and gene expression indicate a role for enhancer priming in immune response |
27 |
| Genebank genomics bridges the gap between the conservation of crop diversity and plant breeding |
27 |
| High-throughput identification of human SNPs affecting regulatory element activity |
27 |
| Signatures of negative selection in the genetic architecture of human complex traits |
27 |
| Genome assembly of a tropical maize inbred line provides insights into structural variation and crop improvement |
27 |
| Molecular and functional variation in iPSC-derived sensory neurons |
27 |
| A genome-wide cross-trait analysis from UK Biobank highlights the shared genetic architecture of asthma and allergic diseases |
27 |
| Dynamic 3D chromatin architecture contributes to enhancer specificity and limb morphogenesis |
27 |
| Adaptation and conservation insights from the koala genome |
27 |
| Genetic architecture of subcortical brain structures in 851 individuals |
26 |
| Resequencing of 414 cultivated and wild watermelon accessions identifies selection for fruit quality traits |
26 |
| Bph6 encodes an exocyst- localized protein and confers broad resistance to planthoppers in rice |
26 |
| Detecting the mutational signature of homologous recombination deficiency in clinical samples |
26 |
| A method for genome-wide genealogy estimation for thousands of samples |
26 |
| The genetic evolution of metastatic uveal melanoma |
26 |
| Loss of DUX causes minor defects in zygotic genome activation and is compatible with mouse development |
26 |
| The landscape of selection in 551 esophageal adenocarcinomas defines genomic biomarkers for the clinic |
25 |
| Identification of 28 new susceptibility loci for type 2 diabetes in the Japanese population |
25 |
| Inferring protein 3D structure from deep mutation scans |
25 |
| Polymer physics predicts the effects of structural variants on chromatin architecture |
25 |
| Probabilistic fine-mapping of transcriptome-wide association studies |
25 |
| A molecular roadmap for the emergence of early-embryonic-like cells in culture |
25 |
| Frequent transmission of the Mycobacterium tuberculosis Beijing lineage and positive selection for the EsxW Beijing variant in Vietnam |
25 |
| UTX-mediated enhancer and chromatin remodeling suppresses myeloid leukemogenesis through noncatalytic inverse regulation of ETS and GATA programs |
25 |
| Distinguishing genetic correlation from causation across 52 diseases and complex traits |
25 |
| Single-allele chromatin interactions identify regulatory hubs in dynamic compartmentalized domains |
25 |
| The mutational footprints of cancer therapies |
25 |
| GADD45A binds R-loops and recruits TET1 to CpG island promoters |
25 |
| CLCN2 chloride channel mutations in familial hyperaldosteronism type II |
25 |
| SETD2 regulates the maternal epigenome, genomic imprinting and embryonic development |
25 |
| A gain-of-function mutation in the CLCN2 chloride channel gene causes primary aldosteronism |
24 |
| A genetics-led approach defines the drug target landscape of 30 immune-related traits |
24 |
| Comparison of methods that use whole genome data to estimate the heritability and genetic architecture of complex traits |
24 |
| Phosphorylation of histone H3.3 at serine 31 promotes p300 activity and enhancer acetylation |
24 |
| MTF2 recruits Polycomb Repressive Complex 2 by helical-shape-selective DNA binding |
24 |
| A precision oncology approach to the pharmacological targeting of mechanistic dependencies in neuroendocrine tumors |
24 |
| Sexual-lineage-specific DNA methylation regulates meiosis in Arabidopsis |
24 |
| A transcriptome-wide association study of 000 women identifies new candidate susceptibility genes for breast cancer |
23 |
| Inferring whole-genome histories in large population datasets |
23 |
| Fine-mapping and functional studies highlight potential causal variants for rheumatoid arthritis and type 1 diabetes |
23 |
| Exome-wide analyses identify low-frequency variant in CYP26B1 and additional coding variants associated with esophageal squamous cell carcinoma |
23 |
| Selective gene dependencies in MYCN-amplified neuroblastoma include the core transcriptional regulatory circuitry |
23 |
| Cancer genetics, precision prevention and a call to action |
22 |
