Bioinformatics and Computational Biology articles for National Institutes of Health (NIH), United States of America (USA)

Time frame: 1 June 2025 - 30 May 2026

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Count: 93

Article ‘Count’ for Bioinformatics and Computational Biology.

Journal Count Share
6 1.51
Multi-ancestry transcriptome prediction with functionally informed variants in TOPMed MESA improves performance of transcriptome-wide association studies 0.03
Best practices for improving alignment and variant calling on human sex chromosomes 0.17
Skeletal muscle eQTL meta-analysis implicates genes in the genetic architecture of muscular and cardiometabolic traits 0.15
Genetic architecture and analysis practices of circulating metabolites in the NHLBI Trans-Omics for Precision Medicine Program 0.03
Evaluating multi-ancestry genome-wide association methods: Statistical power, population structure, and practical implications 0.44
Mapping chromatin interactions at melanoma susceptibility loci uncovers distant cis-regulatory gene targets 0.70
1 0.15
Novel Genetic Loci for Nontuberculous Mycobacterial Pulmonary Disease and Potential Protective Effect of Body Mass Index. 0.15
2 1.04
Multilaboratory Untargeted Mass Spectrometry Metabolomics Collaboration to Identify Bottlenecks and Comprehensively Annotate A Single Dataset 0.04
An Integrated Platform for High-Throughput Extraction and Mass Spectrometry-Based Quantification of Cholesterol and Sphingosine 1.00
1 0.41
Gain of function NOTCH4 variants disrupt angiogenesis in systemic sclerosis 0.41
1 0.10
Novel modelling approaches to elucidate the genetic architecture of resilience to Alzheimer’s disease 0.10
2 0.08
The landscape of structural variation in pediatric cancer 0.06
Gene context drift identifies drug targets to mitigate cancer treatment resistance 0.02
2 1.35
Path2Omics Enhances Transcriptomic and Methylation Prediction Accuracy from Tumor Histopathology. 0.67
Integration of Germline and Somatic Variation Improves Chronic Lymphocytic Leukemia Risk Stratification 0.69
4 1.39
AI-predicted spatial transcriptomics unlocks breast cancer biomarkers from pathology 0.57
Multi-cohort proteogenomic analyses reveal genetic effects across the proteome and diseasome 0.01
Cancer immunology data engine reveals secreted AOAH as a potential immunotherapy 0.75
Human-specific gene expansions contribute to brain evolution 0.06
1 0.30
High-throughput Proteomics in Lymphangioleiomyomatosis: PMEL as a Diagnostic Biomarker, Construction of a Diagnosis Score and Evidence of Neutrophil Involvement. 0.30
3 0.90
Cell-type- and chromosome-specific chromatin landscapes and DNA replication programs of Drosophila testis tumor stem cell–like cells 0.14
Highly accurate assembly polishing with DeepPolisher 0.05
Verkko2 integrates proximity-ligation data with long-read De Bruijn graphs for efficient telomere-to-telomere genome assembly, phasing, and scaffolding 0.71
1 0.05
Integrating genetic and transcriptomic data to identify genes underlying obesity risk loci 0.05
1 0.01
Recurrent Copy Number Variants and Psychiatric Outcomes in the Context of Polygenic Scores 0.01
1 0.27
Transcriptome and chromatin accessibility divergence during differentiation of a bipotential progenitor cell population to erythroblasts and megakaryocytes 0.27
1 0.15
Genetic and non-genetic drivers of histological progression and regression in MASLD 0.15
1 0.20
An allostatic load domain‐specific metabolic profile in young adults: The African‐PREDICT study 0.20
1 0.41
Performance of multiple multi-cancer detection tests using a large independent reference set (Alliance A212102) 0.41
3 0.84
Leveraging transdiagnostic genetic liability to psychiatric disorders to dissect clinical outcomes of anorexia nervosa 0.00
Associations of polygenic risk scores for major depression and depression severity: an investigation of 105 623 individuals with 16 years follow-up 0.00
Genetically modeled GLP1R and GIPR agonism reduce binge drinking and alcohol-associated phenotypes: a multi-ancestry drug-target Mendelian randomization study 0.83
4 1.41
Stress controls heterochromatin inheritance via histone H3 ubiquitylation 0.87
Mapping the genetic landscape across 14 psychiatric disorders 0.01
The formation and propagation of human Robertsonian chromosomes 0.50
Complex genetic variation in nearly complete human genomes 0.03
1 0.15
Accurate somatic small variant discovery for multiple sequencing technologies with DeepSomatic 0.15
2 0.34
Interphase chromosome conformation is specified by distinct folding programmes inherited through mitotic chromosomes or the cytoplasm 0.25
RNA-binding proteins mediate the maturation of chromatin topology during differentiation 0.09
32 8.39
Multi-ancestry transcriptome-wide association studies uncover insights into breast cancer genetics and biology 0.10
Co-occurring clonal hematopoiesis exhibits strong selection and high leukemia risk 0.26
Heterogeneous endocrine cell composition defines human islet functional phenotypes 0.03
CLASHub is an integrated database and analytical platform for microRNA-target interactions 0.11
Admixture-informed polygenic risk reporting using the ePRS framework 0.03
Integrating common and rare variants improves polygenic risk prediction across diverse populations 0.72
Population differences of chromosome 22q11.2 duplication structure predispose differentially to microdeletion and inversion 0.04
Combining multiplexed assays of variant effect for enhanced BRCA2 variant classification 0.11
African-specific genetic loci determine iron status and risk of severe malaria and bacteremia in African children 0.10
An integrated germline and somatic genomic model for coronary artery disease 0.04
Tumor cell villages define the co-dependency of tumor and microenvironment in liver cancer 0.80
Genetic modifiers of -ε4-associated cognitive decline 0.00
KidneyGenAfrica multi-cohort Genome-wide association study and polygenic prediction of kidney function in 110,000 Africans 0.09
Single-cell exon deletion profiling reveals splicing events that shape gene expression and cell state dynamics 0.95
Circulating causal protein networks linked to future risk of myocardial infarction 0.06
Structural basis of double-stranded RNA recognition by the J2 monoclonal antibody 1.00
Proteome-wide association study of prostate cancer risk across populations 0.05
Human plasma proteomic profile of clonal hematopoiesis 0.01
Comparative transcriptome atlas as an assistive modality for complex classification of rare kidney cancers 0.05
Integrating whole genome and transcriptome sequencing to characterize the genetic architecture of isoform variation 0.29
Non-coding genetic variants underlying higher prostate cancer risk in men of African ancestry 0.75
Augmenting microbial phylogenomic signal with tailored marker gene sets 0.50
Gene expression signatures from whole blood predict amyotrophic lateral sclerosis case status and survival 0.03
Genetic determinants and genomic consequences of non-leukemogenic somatic point mutations 0.01
The effect of type 2 diabetes genetic predisposition on non-cardiovascular comorbidities 0.02
Trans-eQTL mapping prioritises USP18 as a negative regulator of interferon response at a lupus risk locus 0.04
Super-silencers are crucial for development and carcinogenesis in B cells 1.00
Peripheral blood DNA methylation predicts the early onset of primary tumor in mutation carriers 0.12
Biobank-scale genetic characterization of Alzheimer’s disease and related dementias across diverse ancestries 0.70
Genome-level selection in tumors as a universal marker of resistance to therapy 0.38
MR-link-2: pleiotropy robust Mendelian randomization validated in three independent reference datasets of causality 0.03
Shared genetic architecture of posttraumatic stress disorder with cardiovascular imaging, risk, and diagnoses 0.00
3 0.11
Population-scale gene-based analysis of whole-genome sequencing provides insights into metabolic health 0.08
Pan-UK Biobank genome-wide association analyses enhance discovery and resolution of ancestry-enriched effects 0.02
Transferability of European-derived Alzheimer’s disease polygenic risk scores across multiancestry populations 0.00
1 0.03
Polygenic prediction of body mass index and obesity through the life course and across ancestries 0.03
4 2.09
SNP calling, haplotype phasing and allele-specific analysis with long RNA-seq reads 0.05
Scaffolds with optimized quaternary symmetry for de novo cryoEM structure determination of small RNAs 1.00
cellSTAAR: incorporating single-cell-sequencing-based functional data to boost power in rare variant association testing of noncoding regions 0.04
GeneAgent: self-verification language agent for gene-set analysis using domain databases 1.00
1 0.17
Integrated MINFLUX tracking reveals two distinct chromatin dynamics classes across cell types 0.17
2 0.10
Polygenic risk scores and Parkinson’s disease in South Africa advancing ancestry informed disease prediction 0.07
Towards a transcriptomic biomarker for the classification of melanocytic neoplasms 0.02
3 1.93
Mot1 regulation of promoter binding by TBP varies with stress and gene expression levels independently of coactivator dependence 1.00
How RAG1/2 evolved from ancestral transposases to initiate V(D)J recombination without transposition 0.33
Evolution of gene order in prokaryotes is driven primarily by gene gain and loss 0.60
1 0.08
Characterizing the informativeness of pathogen genome sequence datasets about transmission between population groups 0.08
3 0.41
Chromatin buffers torsional stress during transcription 0.20
FIGNL1 inhibits homologous recombination in BRCA2 deficient cells by dissociating RAD51 filaments 0.10
Origins and diversity of Greenland’s Qimmit revealed with genomes of ancient and modern sled dogs 0.11
3 2.08
Silencer variants are key drivers of gene up-regulation in Alzheimer’s disease 1.00
TOP2B modulates DNA supercoiling and chromatin contacts during transcriptional induction 0.08
The ISW1 and CHD1 chromatin remodelers suppress global nucleosome dynamics in living yeast cells 1.00
1 0.30
Unique territorial and compartmental organization of chromosomes in the holocentric silkworm 0.30

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