Nature Genetics

(The TQCC of Nature Genetics is 148. The table below lists those papers that are above that threshold based on CrossRef citation counts. The publications cover those that have been published in the past four years, i.e., from 2019-03-01 to 2023-03-01.)
Tumor mutational load predicts survival after immunotherapy across multiple cancer types1920
Genetic meta-analysis of diagnosed Alzheimer’s disease identifies new risk loci and implicates Aβ, tau, immunity and lipid processing1404
Genome-wide meta-analysis identifies new loci and functional pathways influencing Alzheimer’s disease risk1193
Discovery of the first genome-wide significant risk loci for attention deficit/hyperactivity disorder1191
Clinical use of current polygenic risk scores may exacerbate health disparities1171
Identification of common genetic risk variants for autism spectrum disorder1143
Natural variation in Ghd7 is an important regulator of heading date and yield potential in rice1072
Genome-wide association study identifies 30 loci associated with bipolar disorder934
Association studies of up to 1.2 million individuals yield new insights into the genetic etiology of tobacco and alcohol use899
A global overview of pleiotropy and genetic architecture in complex traits536
Causal relationships among the gut microbiome, short-chain fatty acids and metabolic diseases527
Genome-wide association study identifies eight risk loci and implicates metabo-psychiatric origins for anorexia nervosa461
Opportunities and challenges for transcriptome-wide association studies435
Activity-by-contact model of enhancer–promoter regulation from thousands of CRISPR perturbations425
A primer on deep learning in genomics417
Genome-wide analysis of insomnia in 1,331,010 individuals identifies new risk loci and functional pathways404
Gossypium barbadense and Gossypium hirsutum genomes provide insights into the origin and evolution of allotetraploid cotton396
An atlas of genetic influences on osteoporosis in humans and mice396
Durum wheat genome highlights past domestication signatures and future improvement targets379
Genome-wide association analyses of risk tolerance and risky behaviors in over 1 million individuals identify hundreds of loci and shared genetic influences367
A catalog of genetic loci associated with kidney function from analyses of a million individuals363
Reference genome sequences of two cultivated allotetraploid cottons, Gossypium hirsutum and Gossypium barbadense360
Origin and evolution of the octoploid strawberry genome339
Molecular landmarks of tumor hypoxia across cancer types331
The tomato pan-genome uncovers new genes and a rare allele regulating fruit flavor326
The genome sequence of segmental allotetraploid peanut Arachis hypogaea311
Comparative genetic architectures of schizophrenia in East Asian and European populations304
Early-onset ataxia with ocular motor apraxia and hypoalbuminemia is caused by mutations in a new HIT superfamily gene300
Maternal and fetal genetic effects on birth weight and their relevance to cardio-metabolic risk factors292
Comparative genomics of the major parasitic worms282
PAX5-driven subtypes of B-progenitor acute lymphoblastic leukemia278
The genome of cultivated peanut provides insight into legume karyotypes, polyploid evolution and crop domestication277
High-throughput single-cell ChIP-seq identifies heterogeneity of chromatin states in breast cancer270
Suppression of aggregate formation and apoptosis by transglutaminase inhibitors in cells expressing truncated DRPLA protein with an expanded polyglutamine stretch264
A reference genome for pea provides insight into legume genome evolution261
Discovery of common and rare genetic risk variants for colorectal cancer258
Long-read sequencing identifies GGC repeat expansions in NOTCH2NLC associated with neuronal intranuclear inclusion disease254
New genetic signals for lung function highlight pathways and chronic obstructive pulmonary disease associations across multiple ancestries248
Trans-ethnic association study of blood pressure determinants in over 750,000 individuals247
Quantitative evidence for early metastatic seeding in colorectal cancer246
High-density mapping of the MHC identifies a shared role for HLA-DRB1*01:03 in inflammatory bowel diseases and heterozygous advantage in ulcerative colitis234
Biallelic expansion of an intronic repeat in RFC1 is a common cause of late-onset ataxia234
A method for genome-wide genealogy estimation for thousands of samples223
A compendium of promoter-centered long-range chromatin interactions in the human genome221
Identification of new therapeutic targets for osteoarthritis through genome-wide analyses of UK Biobank data220
Highly rearranged chromosomes reveal uncoupling between genome topology and gene expression218
Assembly of a pan-genome from deep sequencing of 910 humans of African descent215
Genebank genomics highlights the diversity of a global barley collection211
A resource-efficient tool for mixed model association analysis of large-scale data200
Noncoding CGG repeat expansions in neuronal intranuclear inclusion disease, oculopharyngodistal myopathy and an overlapping disease196
Expansions of intronic TTTCA and TTTTA repeats in benign adult familial myoclonic epilepsy193
Genetic landscape of chronic obstructive pulmonary disease identifies heterogeneous cell-type and phenotype associations193
The landscape of viral associations in human cancers192
A deletion mutation in TaHRC confers Fhb1 resistance to Fusarium head blight in wheat192
Probabilistic fine-mapping of transcriptome-wide association studies187
PanelApp crowdsources expert knowledge to establish consensus diagnostic gene panels185
Neurodevelopmental disease genes implicated by de novo mutation and copy number variation morbidity182
Target genes, variants, tissues and transcriptional pathways influencing human serum urate levels182
Functional dissection of the Sox9–Kcnj2 locus identifies nonessential and instructive roles of TAD architecture180
Whole-genome deep-learning analysis identifies contribution of noncoding mutations to autism risk179
Biological and clinical insights from genetics of insomnia symptoms177
Multivariate genome-wide analyses of the well-being spectrum173
Lung regeneration by multipotent stem cells residing at the bronchioalveolar-duct junction173
The genomic landscape of metastatic breast cancer highlights changes in mutation and signature frequencies173
A statistical framework for cross-tissue transcriptome-wide association analysis172
Transposable elements drive widespread expression of oncogenes in human cancers169
Transcriptionally active HERV-H retrotransposons demarcate topologically associating domains in human pluripotent stem cells168
Flexible statistical methods for estimating and testing effects in genomic studies with multiple conditions167
Interferons and viruses induce a novel truncated ACE2 isoform and not the full-length SARS-CoV-2 receptor165
Human pancreatic islet three-dimensional chromatin architecture provides insights into the genetics of type 2 diabetes163
A genome-wide algal mutant library and functional screen identifies genes required for eukaryotic photosynthesis160
Resequencing of 429 chickpea accessions from 45 countries provides insights into genome diversity, domestication and agronomic traits160
Exome sequencing highlights the role of wild-relative introgression in shaping the adaptive landscape of the wheat genome158
A map of constrained coding regions in the human genome154
Genome-wide association study identifies 32 novel breast cancer susceptibility loci from overall and subtype-specific analyses154
Genome assembly of a tropical maize inbred line provides insights into structural variation and crop improvement150
Landscape of stimulation-responsive chromatin across diverse human immune cells149
The mutational footprints of cancer therapies148