OOIR: Observatory of International Research

Papers

(The H4-Index of Nature Genetics is 112. 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 2020-11-01 to 2024-11-01.)

Article	Citations
New insights into the genetic etiology of Alzheimer’s disease and related dementias	1044
Large-scale association analyses identify host factors influencing human gut microbiome composition	976
A cross-population atlas of genetic associations for 220 human phenotypes	925
Large-scale cis- and trans-eQTL analyses identify thousands of genetic loci and polygenic scores that regulate blood gene expression	810
Genome-wide association study of more than 40,000 bipolar disorder cases provides new insights into the underlying biology	801
ArchR is a scalable software package for integrative single-cell chromatin accessibility analysis	765
A single-cell and spatially resolved atlas of human breast cancers	716
Computationally efficient whole-genome regression for quantitative and binary traits	630
A genome-wide association study with 1,126,563 individuals identifies new risk loci for Alzheimer’s disease	559
Large-scale integration of the plasma proteome with genetics and disease	555
Genetics of 35 blood and urine biomarkers in the UK Biobank	448
The trans-ancestral genomic architecture of glycemic traits	427
Base-resolution models of transcription-factor binding reveal soft motif syntax	382
The Polygenic Score Catalog as an open database for reproducibility and systematic evaluation	360
Multi-ancestry genetic study of type 2 diabetes highlights the power of diverse populations for discovery and translation	350
Chromothripsis as an on-target consequence of CRISPR–Cas9 genome editing	348
Single-nucleus chromatin accessibility and transcriptomic characterization of Alzheimer’s disease	341
Mapping the temporal and spatial dynamics of the human endometrium in vivo and in vitro	312
Genome-wide meta-analysis, fine-mapping and integrative prioritization implicate new Alzheimer’s disease risk genes	310
Trans-ancestry genome-wide association meta-analysis of prostate cancer identifies new susceptibility loci and informs genetic risk prediction	307
Ultrafast Sample placement on Existing tRees (UShER) enables real-time phylogenetics for the SARS-CoV-2 pandemic	292
Common and rare variant association analyses in amyotrophic lateral sclerosis identify 15 risk loci with distinct genetic architectures and neuron-specific biology	285
Polygenic prediction of educational attainment within and between families from genome-wide association analyses in 3 million individuals	284
A generalized linear mixed model association tool for biobank-scale data	280
An open approach to systematically prioritize causal variants and genes at all published human GWAS trait-associated loci	279

Improving polygenic prediction in ancestrally diverse populations	275
Discovery and systematic characterization of risk variants and genes for coronary artery disease in over a million participants	258
Genomic and phenotypic insights from an atlas of genetic effects on DNA methylation	255
Reevaluating the roles of histone-modifying enzymes and their associated chromatin modifications in transcriptional regulation	245
Advancing human genetics research and drug discovery through exome sequencing of the UK Biobank	242
Rare coding variation provides insight into the genetic architecture and phenotypic context of autism	233
Genome sequencing analysis identifies new loci associated with Lewy body dementia and provides insights into its genetic architecture	225
Efficient phasing and imputation of low-coverage sequencing data using large reference panels	224
Genomic atlas of the plasma metabolome prioritizes metabolites implicated in human diseases	222
A compendium of uniformly processed human gene expression and splicing quantitative trait loci	222
Functionally informed fine-mapping and polygenic localization of complex trait heritability	220
Combined effects of host genetics and diet on human gut microbiota and incident disease in a single population cohort	216
Effect of host genetics on the gut microbiome in 7,738 participants of the Dutch Microbiome Project	212
Genome-wide association study of intracranial aneurysms identifies 17 risk loci and genetic overlap with clinical risk factors	207
Genome-wide analyses of ADHD identify 27 risk loci, refine the genetic architecture and implicate several cognitive domains	204
Polygenic basis and biomedical consequences of telomere length variation	203
Phased diploid genome assemblies and pan-genomes provide insights into the genetic history of apple domestication	203
Integrating human brain proteomes with genome-wide association data implicates new proteins in Alzheimer’s disease pathogenesis	200
Haplotype-resolved genome assembly provides insights into evolutionary history of the tea plant Camellia sinensis	199
Common genetic variants and modifiable risk factors underpin hypertrophic cardiomyopathy susceptibility and expressivity	191
Trans-ancestry analysis reveals genetic and nongenetic associations with COVID-19 susceptibility and severity	191
Cancer cell states recur across tumor types and form specific interactions with the tumor microenvironment	185
Within-sibship genome-wide association analyses decrease bias in estimates of direct genetic effects	182
A high-quality genome assembly highlights rye genomic characteristics and agronomically important genes	182
Genome-wide analysis of 102,084 migraine cases identifies 123 risk loci and subtype-specific risk alleles	181
Genome-wide CRISPR screening identifies TMEM106B as a proviral host factor for SARS-CoV-2	176
Population-scale single-cell RNA-seq profiling across dopaminergic neuron differentiation	176
Long-read sequencing of 3,622 Icelanders provides insight into the role of structural variants in human diseases and other traits	175
Mendelian randomization analyses support causal relationships between blood metabolites and the gut microbiome	172
Shared genetic pathways contribute to risk of hypertrophic and dilated cardiomyopathies with opposite directions of effect	171
Single-cell transcriptomic analyses provide insights into the developmental origins of neuroblastoma	171
Global landscape of SARS-CoV-2 genomic surveillance and data sharing	170
Investigating the genetic architecture of noncognitive skills using GWAS-by-subtraction	170
Assessing the contribution of rare variants to complex trait heritability from whole-genome sequence data	169
Integrating de novo and inherited variants in 42,607 autism cases identifies mutations in new moderate-risk genes	165
Single-cell and bulk transcriptome sequencing identifies two epithelial tumor cell states and refines the consensus molecular classification of colorectal cancer	163
The association between tumor mutational burden and prognosis is dependent on treatment context	163
Fine-mapping, trans-ancestral and genomic analyses identify causal variants, cells, genes and drug targets for type 1 diabetes	162
An integrated framework for local genetic correlation analysis	161
Single-nucleus and spatial transcriptome profiling of pancreatic cancer identifies multicellular dynamics associated with neoadjuvant treatment	160
Chromosome-scale genome assembly provides insights into rye biology, evolution and agronomic potential	156
Plasma proteome analyses in individuals of European and African ancestry identify cis-pQTLs and models for proteome-wide association studies	154
Enhancer–promoter interactions and transcription are largely maintained upon acute loss of CTCF, cohesin, WAPL or YY1	153
The genomic landscape of pediatric acute lymphoblastic leukemia	151
Genome-wide analyses of 200,453 individuals yield new insights into the causes and consequences of clonal hematopoiesis	147
Genetic analyses identify widespread sex-differential participation bias	147
The amino acid transporter SLC7A5 is required for efficient growth of KRAS-mutant colorectal cancer	141
Leveraging fine-mapping and multipopulation training data to improve cross-population polygenic risk scores	141
Genome-wide association analyses of post-traumatic stress disorder and its symptom subdomains in the Million Veteran Program	140
Multimodal pooled Perturb-CITE-seq screens in patient models define mechanisms of cancer immune evasion	140

Tractor uses local ancestry to enable the inclusion of admixed individuals in GWAS and to boost power	140
Improving the trans-ancestry portability of polygenic risk scores by prioritizing variants in predicted cell-type-specific regulatory elements	140
Multi-ancestry genome-wide association analyses identify novel genetic mechanisms in rheumatoid arthritis	139
Whole-exome imputation within UK Biobank powers rare coding variant association and fine-mapping analyses	137
Comprehensive characterization of protein–protein interactions perturbed by disease mutations	136
Single-cell multimodal glioma analyses identify epigenetic regulators of cellular plasticity and environmental stress response	134
A map of transcriptional heterogeneity and regulatory variation in human microglia	134
Genetic architecture of 11 major psychiatric disorders at biobehavioral, functional genomic and molecular genetic levels of analysis	134
DeepSTARR predicts enhancer activity from DNA sequence and enables the de novo design of synthetic enhancers	133
Genome-wide analysis of 53,400 people with irritable bowel syndrome highlights shared genetic pathways with mood and anxiety disorders	130
Conservation of copy number profiles during engraftment and passaging of patient-derived cancer xenografts	130
Single-cell analyses define a continuum of cell state and composition changes in the malignant transformation of polyps to colorectal cancer	129
Separating measurement and expression models clarifies confusion in single-cell RNA sequencing analysis	128
Epigenetic encoding, heritability and plasticity of glioma transcriptional cell states	126
Mammalian SWI/SNF continuously restores local accessibility to chromatin	125
Genetic analysis of the human microglial transcriptome across brain regions, aging and disease pathologies	125
A quantitative genomics map of rice provides genetic insights and guides breeding	124
A cross-platform approach identifies genetic regulators of human metabolism and health	124
Meningioma DNA methylation groups identify biological drivers and therapeutic vulnerabilities	124
Breast tumor microenvironment structures are associated with genomic features and clinical outcome	123
Acute BAF perturbation causes immediate changes in chromatin accessibility	122
A novel ACE2 isoform is expressed in human respiratory epithelia and is upregulated in response to interferons and RNA respiratory virus infection	120
Genome-wide prediction of disease variant effects with a deep protein language model	119
Independence of chromatin conformation and gene regulation during Drosophila dorsoventral patterning	117
Single-cell transcriptomics of human embryos identifies multiple sympathoblast lineages with potential implications for neuroblastoma origin	117
Chromosome-scale and haplotype-resolved genome assembly of a tetraploid potato cultivar	117
Characterizing the molecular regulation of inhibitory immune checkpoints with multimodal single-cell screens	116
Two divergent haplotypes from a highly heterozygous lychee genome suggest independent domestication events for early and late-maturing cultivars	116
CTCF mediates dosage- and sequence-context-dependent transcriptional insulation by forming local chromatin domains	115
Cis-regulatory chromatin loops arise before TADs and gene activation, and are independent of cell fate during early Drosophila development	114
Pangenome-based genome inference allows efficient and accurate genotyping across a wide spectrum of variant classes	114
cGAS-mediated induction of type I interferon due to inborn errors of histone pre-mRNA processing	114
Genome-wide analysis provides genetic evidence that ACE2 influences COVID-19 risk and yields risk scores associated with severe disease	114
A genome-wide atlas of co-essential modules assigns function to uncharacterized genes	113
Single-cell chromatin accessibility identifies pancreatic islet cell type– and state-specific regulatory programs of diabetes risk	113
A sequence-based global map of regulatory activity for deciphering human genetics	113
Genome-wide association study in 8,956 German individuals identifies influence of ABO histo-blood groups on gut microbiome	112
Cohesin and CTCF control the dynamics of chromosome folding	112
Discovery of rare variants associated with blood pressure regulation through meta-analysis of 1.3 million individuals	112