OOIR: Observatory of International Research

Papers

(The H4-Index of Nature Genetics is 109. 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 2020-04-01 to 2024-04-01.)

Article	Citations
New insights into the genetic etiology of Alzheimer’s disease and related dementias	703
Large-scale association analyses identify host factors influencing human gut microbiome composition	682
Genome-wide association study of more than 40,000 bipolar disorder cases provides new insights into the underlying biology	626
ArchR is a scalable software package for integrative single-cell chromatin accessibility analysis	601
Large-scale cis- and trans-eQTL analyses identify thousands of genetic loci and polygenic scores that regulate blood gene expression	582
A cross-population atlas of genetic associations for 220 human phenotypes	558
A single-cell and spatially resolved atlas of human breast cancers	537
Computationally efficient whole-genome regression for quantitative and binary traits	450
A genome-wide association study with 1,126,563 individuals identifies new risk loci for Alzheimer’s disease	432
Discovery of 318 new risk loci for type 2 diabetes and related vascular outcomes among 1.4 million participants in a multi-ancestry meta-analysis	432
Lineage-dependent gene expression programs influence the immune landscape of colorectal cancer	375
Genetics of 35 blood and urine biomarkers in the UK Biobank	369
Cancer therapy shapes the fitness landscape of clonal hematopoiesis	353
Large-scale integration of the plasma proteome with genetics and disease	345
The trans-ancestral genomic architecture of glycemic traits	338
Base-resolution models of transcription-factor binding reveal soft motif syntax	315
Large-scale genome-wide association study in a Japanese population identifies novel susceptibility loci across different diseases	300
Mendelian randomization accounting for correlated and uncorrelated pleiotropic effects using genome-wide summary statistics	298
Chromothripsis as an on-target consequence of CRISPR–Cas9 genome editing	298
Phenome-wide Mendelian randomization mapping the influence of the plasma proteome on complex diseases	289
The Polygenic Score Catalog as an open database for reproducibility and systematic evaluation	281
Single-nucleus chromatin accessibility and transcriptomic characterization of Alzheimer’s disease	265
Extrachromosomal DNA is associated with oncogene amplification and poor outcome across multiple cancers	264
Ultrafast Sample placement on Existing tRees (UShER) enables real-time phylogenetics for the SARS-CoV-2 pandemic	258
Genome-wide meta-analysis, fine-mapping and integrative prioritization implicate new Alzheimer’s disease risk genes	257

Genome-wide association study identifies 32 novel breast cancer susceptibility loci from overall and subtype-specific analyses	255
Trans-ancestry genome-wide association meta-analysis of prostate cancer identifies new susceptibility loci and informs genetic risk prediction	254
Mapping the temporal and spatial dynamics of the human endometrium in vivo and in vitro	243
Multi-ancestry genetic study of type 2 diabetes highlights the power of diverse populations for discovery and translation	242
Genomic diversifications of five Gossypium allopolyploid species and their impact on cotton improvement	236
Genome sequence of Gossypium herbaceum and genome updates of Gossypium arboreum and Gossypium hirsutum provide insights into cotton A-genome evolution	227
Common and rare variant association analyses in amyotrophic lateral sclerosis identify 15 risk loci with distinct genetic architectures and neuron-specific biology	222
Pan-cancer single-cell RNA-seq identifies recurring programs of cellular heterogeneity	220
Polygenic prediction of educational attainment within and between families from genome-wide association analyses in 3 million individuals	219
Single-cell epigenomic analyses implicate candidate causal variants at inherited risk loci for Alzheimer’s and Parkinson’s diseases	214
Advancing human genetics research and drug discovery through exome sequencing of the UK Biobank	210
Reevaluating the roles of histone-modifying enzymes and their associated chromatin modifications in transcriptional regulation	209
Genomic and phenotypic insights from an atlas of genetic effects on DNA methylation	208
An open approach to systematically prioritize causal variants and genes at all published human GWAS trait-associated loci	203
Genetic identification of cell types underlying brain complex traits yields insights into the etiology of Parkinson’s disease	202
Interferons and viruses induce a novel truncated ACE2 isoform and not the full-length SARS-CoV-2 receptor	199
Population-specific and trans-ancestry genome-wide analyses identify distinct and shared genetic risk loci for coronary artery disease	198
Improving polygenic prediction in ancestrally diverse populations	193
Multi-cancer analysis of clonality and the timing of systemic spread in paired primary tumors and metastases	193
The DNA methylation landscape of advanced prostate cancer	192
Genome sequencing analysis identifies new loci associated with Lewy body dementia and provides insights into its genetic architecture	188
An integrated multi-omics approach identifies epigenetic alterations associated with Alzheimer’s disease	188
A compendium of uniformly processed human gene expression and splicing quantitative trait loci	182
Functionally informed fine-mapping and polygenic localization of complex trait heritability	181
Efficient phasing and imputation of low-coverage sequencing data using large reference panels	179
Quantifying genetic effects on disease mediated by assayed gene expression levels	179
Triticum population sequencing provides insights into wheat adaptation	176
Trans-ancestry analysis reveals genetic and nongenetic associations with COVID-19 susceptibility and severity	176
A generalized linear mixed model association tool for biobank-scale data	174
Prostate cancer reactivates developmental epigenomic programs during metastatic progression	170
Cas9 activates the p53 pathway and selects for p53-inactivating mutations	166
Combined effects of host genetics and diet on human gut microbiota and incident disease in a single population cohort	165
A high-quality genome assembly highlights rye genomic characteristics and agronomically important genes	164
Common genetic variants and modifiable risk factors underpin hypertrophic cardiomyopathy susceptibility and expressivity	164
Genome-wide association study of intracranial aneurysms identifies 17 risk loci and genetic overlap with clinical risk factors	164
Phased diploid genome assemblies and pan-genomes provide insights into the genetic history of apple domestication	164
Complex genetic signatures in immune cells underlie autoimmunity and inform therapy	162
Genome-wide CRISPR screening identifies TMEM106B as a proviral host factor for SARS-CoV-2	161
Rare coding variation provides insight into the genetic architecture and phenotypic context of autism	157
Haplotype-resolved genome assembly provides insights into evolutionary history of the tea plant Camellia sinensis	154
N6-Methyladenosine co-transcriptionally directs the demethylation of histone H3K9me2	153
Shared genetic pathways contribute to risk of hypertrophic and dilated cardiomyopathies with opposite directions of effect	153
Integrating human brain proteomes with genome-wide association data implicates new proteins in Alzheimer’s disease pathogenesis	150
Long-read sequencing of 3,622 Icelanders provides insight into the role of structural variants in human diseases and other traits	149
Genome-wide selection and genetic improvement during modern maize breeding	147
Discovery and systematic characterization of risk variants and genes for coronary artery disease in over a million participants	147
Polygenic basis and biomedical consequences of telomere length variation	146
Dynamic incorporation of multiple in silico functional annotations empowers rare variant association analysis of large whole-genome sequencing studies at scale	144
Population-scale single-cell RNA-seq profiling across dopaminergic neuron differentiation	144
Investigating the genetic architecture of noncognitive skills using GWAS-by-subtraction	140

Within-sibship genome-wide association analyses decrease bias in estimates of direct genetic effects	136
The association between tumor mutational burden and prognosis is dependent on treatment context	136
Assessing the contribution of rare variants to complex trait heritability from whole-genome sequence data	136
Global landscape of SARS-CoV-2 genomic surveillance and data sharing	135
Cancer cell states recur across tumor types and form specific interactions with the tumor microenvironment	134
Haplotype-resolved genome analyses of a heterozygous diploid potato	134
Mendelian randomization analyses support causal relationships between blood metabolites and the gut microbiome	134
Genome-wide association meta-analyses combining multiple risk phenotypes provide insights into the genetic architecture of cutaneous melanoma susceptibility	134
Effect of host genetics on the gut microbiome in 7,738 participants of the Dutch Microbiome Project	134
Chromosome-scale genome assembly provides insights into rye biology, evolution and agronomic potential	133
Genome-wide analysis of 102,084 migraine cases identifies 123 risk loci and subtype-specific risk alleles	133
Unraveling tumor–immune heterogeneity in advanced ovarian cancer uncovers immunogenic effect of chemotherapy	133
Single-cell transcriptomic analyses provide insights into the developmental origins of neuroblastoma	132
Fine-mapping, trans-ancestral and genomic analyses identify causal variants, cells, genes and drug targets for type 1 diabetes	131
A unified framework for joint-tissue transcriptome-wide association and Mendelian randomization analysis	130
Guidelines for human gene nomenclature	130
Regulation of single-cell genome organization into TADs and chromatin nanodomains	128
Exploring and visualizing large-scale genetic associations by using PheWeb	127
Improving the trans-ancestry portability of polygenic risk scores by prioritizing variants in predicted cell-type-specific regulatory elements	126
Tractor uses local ancestry to enable the inclusion of admixed individuals in GWAS and to boost power	125
Landscape of G-quadruplex DNA structural regions in breast cancer	123
Genetic analyses identify widespread sex-differential participation bias	122
Genome-wide association analyses of post-traumatic stress disorder and its symptom subdomains in the Million Veteran Program	120
Scalable generalized linear mixed model for region-based association tests in large biobanks and cohorts	118
A novel ACE2 isoform is expressed in human respiratory epithelia and is upregulated in response to interferons and RNA respiratory virus infection	117
The amino acid transporter SLC7A5 is required for efficient growth of KRAS-mutant colorectal cancer	115
An integrated framework for local genetic correlation analysis	115
Conservation of copy number profiles during engraftment and passaging of patient-derived cancer xenografts	113
A cross-platform approach identifies genetic regulators of human metabolism and health	112
Single-cell multimodal glioma analyses identify epigenetic regulators of cellular plasticity and environmental stress response	111
Genetic analyses support the contribution of mRNA N6-methyladenosine (m6A) modification to human disease heritability	110
High-definition likelihood inference of genetic correlations across human complex traits	110
Multimodal pooled Perturb-CITE-seq screens in patient models define mechanisms of cancer immune evasion	110
A map of transcriptional heterogeneity and regulatory variation in human microglia	109