Bioinformatics and Computational Biology articles for Australia

Time frame: 1 May 2025 - 30 April 2026

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Count: 131

Article ‘Count’ for Bioinformatics and Computational Biology.

Journal Count Share
4 0.40
Genetics of skeletal proportions across two different populations 0.06
COMPADRE: Combined pedigree-aware distant relatedness estimation for improved pedigree reconstruction 0.11
A calcium-sensing receptor allelic series and underdiagnosis of genetically driven hypocalcemia 0.13
Validating data from multiplex assays of variant effect: A CanVIG-UK national survey of NHS clinical scientists 0.10
1 0.12
Exploring the Varied Clinical Presentation of Pediatric Asthma through the Metabolome 0.12
8 4.05
Efficient Transformation Product Identification and Structural Elucidation Using an Integrated Bottom-Up HRMS Workflow with Pyhrms and Transformapy 0.13
Artificial Intelligence-Based LC-OzESI-MRM for Isomer-Resolved Triacylglycerol Profiling by In-Source Ozonolysis 0.25
A Clinical Lipidomics Platform: Development and Validation of a High-Throughput LC-MS Assay for Cardiovascular Disease Risk Assessment 1.00
Advancing Collision-Induced Affinity Selection Mass Spectrometry for Quantitative Ligand Analysis in Complex Mixtures 1.00
Measurable Feature Prediction for Estimating Chemical Space Coverage in LC–ESI–HRMS Nontargeted Analysis 0.07
Epoxidation-Enhanced Charge-Switch Derivatization for Rapid Profiling of Monounsaturated Fatty Acid Isomers 1.00
Investigating a Systematic and Widespread Misidentification in the Metabolic Profiling Literature: Phenylacetylglutamine and Phenylacetylglycine Signal Misassignment in Proton NMR Spectra of Human and Rodent Urine 0.50
Enhanced Fingerprinting Strategy for Rapid and Accurate Quantitative Source and Contaminant Apportionment via Online SPE-UHPLC-QTOF-MS 0.11
1 0.41
Blood Lactate as a Prognostic Biomarker for Survival and Weight Loss in Amyotrophic Lateral Sclerosis: An Exploratory–Validation Study 0.41
1 0.09
Distinct effects of complement C4A and C4B copy number in Systemic Sclerosis serological and clinical subtypes 0.09
1 0.05
Array Genotyping of Transfusion Relevant Blood Cell Antigens in 6946 Ancestrally Diverse Subjects 0.05
1 0.01
Novel modelling approaches to elucidate the genetic architecture of resilience to Alzheimer’s disease 0.01
2 0.15
Path2Omics Enhances Transcriptomic and Methylation Prediction Accuracy from Tumor Histopathology. 0.10
Heterogeneous Driving Effects Guide Personalized Tumor Treatments Targeting N6-methyladenosine 0.05
3 0.15
Four centuries of commercial whaling eroded 11,000 years of population stability in bowhead whales 0.04
Evolution of Mycobacterium tuberculosis transcription regulation is associated with increased transmission and drug resistance 0.07
Tracing the evolutionary history of the CCR5delta32 deletion via ancient and modern genomes 0.04
1 1.00
Direct detection of microRNA in liquid biopsies from single cancer spheroids 1.00
3 0.54
A new fossil fish sheds light on the rapid evolution of early lungfishes 0.13
Population genomics of a sailing siphonophore reveals genetic structure in the open ocean 0.13
The expanded Bostrychia moritziana genome unveils evolution in the most diverse and complex order of red algae 0.29
4 0.39
Genetic determinants of childhood blood pressure and heart rate in relation to adult health outcomes: the consortium of childhood blood pressure 0.04
Cardiac sarcoidosis: new insights beyond the granuloma using spatial proteomics 0.10
<atl>Automated patch clamp data improve variant classification and penetrance stratification for iSCN5A/i –Brugada syndrome</atl> 0.23
Clonal haematopoiesis of indeterminate potential and mortality in coronary artery disease 0.01
5 3.69
Complete genetic and epigenetic architecture of D4Z4 macrosatellites in FSHD, BAMS, and reference cohorts with D4Z4End2End 0.75
Scalable cell-specific coexpression networks for granular regulatory pattern discovery with NeighbourNet 1.00
The SeqSplice multiplexed minigene splicing assay for characterization and quantitation of variant-induced BRCA1 and BRCA2 splice isoforms 0.83
Long-read genomics reveal extensive nuclear-specific evolution and allele-specific expression in a dikaryotic fungus 1.00
Common cis-regulatory variation modifies the penetrance of pathogenic SHROOM3 variants in craniofacial microsomia 0.11
1 0.06
Biomarkers of Insulin Resistance and Their Performance as Predictors of Treatment Response in Overweight Adults 0.06
1 0.11
Myeloid cell genome-wide screen identifies variants associated with Mycobacterium tuberculosis–induced cytokine transcriptional responses 0.11
2 0.97
A CDK11-dependent RNA polymerase II pause-checkpoint precedes CDK9-mediated transition to transcriptional elongation 0.90
Chromatin-dependent motif syntax defines differentiation trajectories 0.07
2 1.01
Leveraging transdiagnostic genetic liability to psychiatric disorders to dissect clinical outcomes of anorexia nervosa 0.05
Genomic risk prediction for depression in a large prospective study of older adults of European descent 0.95
10 1.20
Saturation editing of reveals distinct dominant and recessive disorders 0.11
Largest Silurian fish illuminates the origin of osteichthyan characters 0.07
Phenome-wide analysis of copy number variants in 470,727 UK Biobank genomes 0.01
Mapping the genetic landscape across 14 psychiatric disorders 0.04
Tumour-reactive heterotypic CD8 T cell clusters from clinical samples 0.04
Estimation and mapping of the missing heritability of human phenotypes 0.44
Assessing phylogenetic confidence at pandemic scales 0.40
Eight millennia of continuity of a previously unknown lineage in Argentina 0.03
Pathology-oriented multiplexing enables integrative disease mapping 0.03
A haplotype-resolved pangenome of the barley wild relative 0.03
1 0.32
Standardized metrics for assessment and reproducibility of imaging-based spatial transcriptomics datasets 0.32
38 13.45
Isoform-specific m6A deposition and coordinated splicing shape mammalian transcriptome evolution 0.88
Solubility based mechanistic profiling of combinatorial drug therapy 0.08
Optimizing global genomic surveillance for early detection of emerging SARS-CoV-2 variants 0.06
An international multi-centre study to develop and validate federated learning-based prognostic models for anal cancer 0.11
Population genomics reveals association of transposable elements variants with climatic adaptation in wild Amur grape 0.02
Genetic modifiers of -ε4-associated cognitive decline 0.00
Distinct genetic profiles influence body mass index between infancy and adolescence 1.00
genome analyses indicate introgression may drive local adaptation and herbicide resistance 0.05
A catalogue of early diverged contemporary human genome variation reveals distinct Khoe-San populations 0.38
Metabolic characterization of tumor-immune interactions by multiplexed immunofluorescence reveals spatial mechanisms of immunotherapy response in non-small cell lung carcinoma (NSCLC) 0.38
Crowdsourced biodiversity monitoring fills gaps in global plant trait mapping 0.01
Neural crest cell-derived DKK1 and NEDD4 modulate Wnt signalling in the second heart field to orchestrate outflow tract development 0.96
Robust and interpretable prediction of gene markers and cell types from spatial transcriptomics data 1.00
Integrated multi-omic atlas reveals the hierarchy of spatiotemporal regulatory networks of mouse gastrulation 0.07
The Health for Life in Singapore (HELIOS) Study: delivering precision medicine research for Asian populations 0.01
Large-scale drug sensitivity, gene dependency, and proteogenomic analyses of telomere maintenance mechanisms in cancer cells 0.82
Genome graphs reveal the importance of structural variation in Mycobacterium tuberculosis evolution and drug resistance 0.93
Insights into natural neocentromere evolution from a cattle T2T X chromosome 0.67
Motif-based models accurately predict cell type-specific distal regulatory elements 1.00
Targeted sequencing and iterative assembly of near-complete genomes 0.83
A histomorphological atlas of resected mesothelioma discovered by self-supervised learning from 3446 whole-slide images 0.05
Trans-eQTL mapping prioritises USP18 as a negative regulator of interferon response at a lupus risk locus 0.03
A basic framework to explain splice-site choice in eukaryotes 0.89
The genetic diversity of Indonesian cattle has been shaped by multiple introductions and adaptive introgression 0.03
Peripheral blood DNA methylation predicts the early onset of primary tumor in mutation carriers 0.04
Large-scale GWAS of strabismus identifies risk loci and provides support for a link with maternal smoking 0.26
A high-resolution, nanopore-based artificial intelligence assay for DNA replication stress in human cancer cells 0.50
Machine-learning driven strategies for adapting immunotherapy in metastatic NSCLC 0.01
Machine learning in Alzheimer’s disease genetics 0.01
MR-link-2: pleiotropy robust Mendelian randomization validated in three independent reference datasets of causality 0.07
Shared genetic architecture of posttraumatic stress disorder with cardiovascular imaging, risk, and diagnoses 0.08
MORC2 is a phosphorylation-dependent DNA compaction machine 0.80
Divergent trajectories to structural diversity impact patient survival in high grade serous ovarian cancer 0.01
Multi-tissue expression and splicing data prioritise anatomical subsite- and sex-specific colorectal cancer susceptibility genes 0.19
A multi-hospital, clinician-initiated bacterial genomics programme to investigate treatment failure in severe Staphylococcus aureus infections 1.00
Analysis of more than 400,000 women provides case-control evidence for BRCA1 and BRCA2 variant classification 0.06
Twin pair analysis uncovers links between DNA methylation, mitochondrial DNA quantity and obesity 0.10
Genome-wide analyses of variance in blood cell phenotypes provide new insights into complex trait biology and prediction 0.07
8 1.27
Genome-wide fine-mapping improves identification of causal variants 0.71
Exome sequencing and analysis of 44,028 British South Asians enriched for high autozygosity 0.02
Designing synthetic regulatory elements using the generative AI framework DNA-Diffusion 0.11
JMJD2 regulates enhancer–promoter interactions via biomolecular condensate formation 0.03
Genome-wide association meta-analysis of childhood ADHD symptoms and diagnosis identifies new loci and potential effector genes 0.13
DNA methylation cooperates with genomic alterations during non-small cell lung cancer evolution 0.01
Transferability of European-derived Alzheimer’s disease polygenic risk scores across multiancestry populations 0.01
The contribution of gametic phase disequilibrium to the heritability of complex traits 0.26
2 0.22
Genetics of monozygotic twins reveals the impact of environmental sensitivity on psychiatric and neurodevelopmental phenotypes 0.21
Genome-wide association meta-analysis of age at onset of walking in over 70,000 infants of European ancestry 0.01
1 0.03
Polygenic prediction of body mass index and obesity through the life course and across ancestries 0.03
4 2.14
Rate variation and recurrent sequence errors in pandemic-scale phylogenetics 0.20
High-parameter spatial multi-omics through histology-anchored integration 0.11
Bin Chicken: targeted metagenomic coassembly for the efficient recovery of novel genomes 1.00
Spatial gene expression at single-cell resolution from histology using deep learning with GHIST 0.83
2 1.09
CRISPRi screening in cultured human astrocytes uncovers distal enhancers controlling genes dysregulated in Alzheimer’s disease 0.95
Fine-mapping genomic loci refines bipolar disorder risk genes 0.15
1 0.07
Multiplex and multimodal mapping of variant effects in secreted proteins via MultiSTEP 0.07
1 0.10
Decoding Gene–Lifestyle Synergy in Diabetic Retinopathy Development: A Transethnic Prospective Cohort Study 0.10
2 0.60
A metabolic atlas of the Klebsiella pneumoniae species complex reveals lineage-specific metabolism and capacity for intra-species co-operation 0.52
Genome mining based on transcriptional regulatory networks uncovers a novel locus involved in desferrioxamine biosynthesis 0.08
5 2.99
Examining the association between fetal HLA-C, maternal KIR haplotypes and birth weight 0.68
Mapping the gene regulatory landscape of archaic hominin introgression in modern Papuans 0.47
An evaluation of age-varying genetic effects underlying body-mass index and blood pressure in the UK Biobank 0.06
New composite phenotypes enhance chronic kidney disease classification and genetic associations. 1.00
An integrative approach to prioritize candidate causal genes for complex traits in cattle 0.78
4 2.98
Chromosome-Scale Haplotype Genome Assemblies for the Australian Mango ‘Kensington Pride’ and a Wild Relative, Mangifera laurina, Provide Insights Into Anthracnose-Resistance and Volatile Compound Biosynthesis Genes 1.00
Largest genome assembly in Brassicaceae: retrotransposon-driven genome expansion and karyotype evolution in Matthiola incana 0.07
An Australian chickpea pan-genome provides insights into genome organization and offers opportunities for enhancing drought adaptation for crop improvement 0.91
Characterizing the structural variations in the genome of the mandarin variety, IrM2, induced by gamma irradiation 1.00
5 2.40
Genome of venomous caterpillar Doratifera vulnerans reveals recruitment of immune peptides and their adaptation as pain-inducing toxins 0.83
Integrating extensive functional annotations and multiomics of cattle enhances climate resilience prediction and mapping 0.82
Procollagen IIA mediates positive feedback control of the mouse cardiogenic transcriptional network 0.40
Fragmentation signatures in cancer patients resemble those of patients with vascular or autoimmune diseases 0.10
Population sequencing for phylogenetic diversity and transmission analyses 0.25
3 2.31
Hermaphrodites have lower metabolic rates than gonochores. 0.75
Collagen fingerprinting and sequence analysis provides a molecular phylogeny of extinct Australian megafauna 0.70
Variation in temperature but not diet determines the stability of latitudinal clines in tolerance traits and their plasticity. 0.86
2 0.31
Genome-wide association study reveals genetic architecture and evolution of human retinal pigmentation 0.06
Phylogenomics establishes an Early Miocene reconstruction of reef vertebrate diversity 0.25
1 0.04
<atl>Targeted genetic manipulation and yeast-like evolutionary genomics in the green alga iAuxenochlorella/i</atl> 0.04

Numerical information only (in the tables above) is licensed under a Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International.