Genome Research

Papers
(The H4-Index of Genome Research is 42. 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 2021-01-01 to 2025-01-01.)
ArticleCitations
A general framework for identifying oligogenic combinations of rare variants in complex disorders281
Deep sequencing of 1320 genes reveals the landscape of protein-truncating variants and their contribution to psoriasis in 19,973 Chinese individuals253
Accurate transcriptome-wide identification and quantification of alternative polyadenylation from RNA-seq data with APAIQ179
Highly complete long-read genomes reveal pangenomic variation underlying yeast phenotypic diversity134
Extensive protein dosage compensation in aneuploid human cancers106
Combinatorial microRNA activity is essential for the transition of pluripotent cells from proliferation into dormancy100
Estrogen receptor 1 chromatin profiling in human breast tumors reveals high inter-patient heterogeneity with enrichment of risk SNPs and enhancer activity at most-conserved regions92
Allele-specific RNAN6-methyladenosine modifications reveal functional genetic variants in human tissues75
A Bayesian framework to study tumor subclone–specific expression by combining bulk DNA and single-cell RNA sequencing data69
Gene by environment interaction mouse model reveals a functional role for 5-hydroxymethylcytosine in neurodevelopmental disorders68
Enabling tradeoffs in privacy and utility in genomic data Beacons and summary statistics68
The aberrant epigenome ofDNMT3B-mutated ICF1 patient iPSCs is amenable to correction, with the exception of a subset of regions with H3K4me3- and/or CTCF-based epigenetic memory67
Reevaluation of the Toxoplasma gondii and Neospora caninum genomes reveals misassembly, karyotype differences, and chromosomal rearrangements66
Spatially resolved whole transcriptome profiling in human and mouse tissue using Digital Spatial Profiling64
An efficient method to identify, date, and describe admixture events using haplotype information64
Defining the separation landscape of topological domains for decoding consensus domain organization of the 3D genome63
Unraveling the palindromic and nonpalindromic motifs of retroviral integration site sequences by statistical mixture models61
Characterizing the targets of transcription regulators by aggregating ChIP-seq and perturbation expression data sets60
De novo individualized disease modules reveal the synthetic penetrance of genes and inform personalized treatment regimens58
tRNA-derived small RNAs are embedded in the gene regulatory network instructingDrosophilametamorphosis56
GenomeMUSter mouse genetic variation service enables multitrait, multipopulation data integration and analysis55
Genome-wide promoter assembly in E. coli measured at single-base resolution54
Comprehensive identification of genomic and environmental determinants of phenotypic plasticity in maize54
Designing realistic regulatory DNA with autoregressive language models51
A scalable adaptive quadratic kernel method for interpretable epistasis analysis in complex traits51
Protein domain embeddings for fast and accurate similarity search51
Erratum: A butterfly pan-genome reveals that a large amount of structural variation underlies the evolution of chromatin accessibility50
Erratum: Proving sequence aligners can guarantee accuracy in almostO(mlogn) time through an average-case analysis of the seed-chain-extend heuristic48
Mosaic loss of Chromosome Y in aged human microglia48
Parental methylome reprogramming in human uniparental blastocysts reveals germline memory transition48
A joint deep learning model enables simultaneous batch effect correction, denoising, and clustering in single-cell transcriptomics48
High-throughput and genome-scale targeted mutagenesis using CRISPR in a nonmodel multicellular organism,Bombyx mori47
Genomic context sensitivity of insulator function46
Efficient taxa identification using a pangenome index46
Profiling the quantitative occupancy of myriad transcription factors across conditions by modeling chromatin accessibility data46
Epigenomic analysis reveals prevalent contribution of transposable elements to cis-regulatory elements, tissue-specific expression, and alternative promoters in zebrafish45
Genome-wide profiling reveals functional interplay of DNA sequence composition, transcriptional activity, and nucleosome positioning in driving DNA supercoiling and helix destabilization in C. eleg45
The pig pangenome provides insights into the roles of coding structural variations in genetic diversity and adaptation44
Spatial organization of chromosomes leads to heterogeneous chromatin motion and drives the liquid- or gel-like dynamical behavior of chromatin44
A statistical physics approach for disease module detection44
Characteristics, origin, and potential for cancer diagnostics of ultrashort plasma cell-free DNA43
Population genomics reveals mechanisms and dynamics of de novo expressed open reading frame emergence inDrosophila melanogaster43
Genomic architecture constrained placental mammal X Chromosome evolution42
Functional noncoding SNPs in human endothelial cells fine-map vascular trait associations42
Leveraging protein language models for accurate multiple sequence alignments42
0.03894305229187