All Stories

  1. Deep generative models in biological sequence and structure analysis and design
  2. Cross-Ancestry Analysis of the 1q31 Th2-Associated Interval in Steroid-Dependent Asthma
  3. Immune-Inflammatory, Autophagy, and JNK Remodeling in Ischemic and Nonischemic Human Myocardium
  4. Application of natural language processing to predict diagnosis and treatments for 540 pediatric diseases based on 85,087 Electronic health records
  5. Applying AlphaGenome Variant Impact for SNV Prioritization
  6. 38. INTEGRATIVE MULTI-OMICS AND DEEP LEARNING ANALYSIS IDENTIFIES CTNND2 AND NETO1 AS KEY NEURODEVELOPMENTAL DISORDER RISK GENES IN A PEDIATRIC COHORT OF 68,975 INDIVIDUALS
  7. Polygenic risk scores in human genetics for study design discovery and translation
  8. Precision Medicine 3.0: Integrating Genomic Stratification with Adaptive Therapeutic Trajectories
  9. Drug repurposing opportunities across 92 CNS-related conditions using deep learning and whole-genome sequencing
  10. Topical Donepezil for Cholinergic Modulation in Chronic Wound Repair
  11. Development and application of type 1 diabetes polygenic scores across diverse populations
  12. SYCP3 enhances prostate cancer metastasis and modulates the DNA damage response pathway
  13. Shared genetic architecture and therapeutic targets across paediatric immune-mediated diseases
  14. Sex and Obesity Stratified Asthma GWAS in African and European Ancestry Populations
  15. Neuroinflammation as a driver of Down syndrome-associated Alzheimer’s disease
  16. Genetic susceptibility shaped by biological state: beyond gene-environment interaction
  17. Unsupervised Deep Representation Learning and Probabilistic Clustering for the Systems-Level Discovery of Germline Mutation Signatures in Pediatric Cancers
  18. Cross-Ancestry Remapping of the Chromosome 1q31 Th2 pathway-associated interval Refines an Asthma Association Signal in Patients with Steroid-Dependent Disease
  19. SCOTCH: isoform-level characterization of gene expression through long-read single-cell RNA sequencing
  20. Targeting glutamatergic pathways: genetic insights into comorbid neurodevelopmental disorders
  21. Emergence of a high-risk multidrug-resistant Acinetobacter baumannii clone ST697 in nosocomial settings
  22. Convergent genetic pathways linking neuropsychiatric and ocular disorders in children
  23. Circulating amino acids and Type 2 diabetes in a Latin American population-based cohort
  24. Vascular malformations of the head and neck and a molecularly guided precision therapy framework
  25. Development and validation of a trans-ancestry polygenic risk score for type 1 diabetes
  26. Editorial: Insights in applied genetic epidemiology 2025
  27. Genetic susceptibility to PM2.5 exposure and transcriptional responses in pediatric asthma: insights from single-cell transcriptomics
  28. Sex specific genomic insights into type 1 diabetes through GWAS and single cell transcriptome analysis
  29. Circulating amino acids and Type 2 diabetes in a Latin American Population-based cohort
  30. APOL1 kidney risk variants and outcomes in children with congenital anomalies of the kidney and urinary tract
  31. Metabolic remodeling and the modulatory role of vitamin D deficiency in African American children and adolescents with obesity
  32. Single vs Dual Genetic Disease in Children with Congenital Anomalies and Solid Tumors
  33. Redefining the role of the thiol-based agent N -acetylcysteine in human health and disease and elucidating potential advantages of its amide derivative
  34. Integrative Multi-omics Analysis and Mendelian Randomization Reveal Potential Therapeutic Targets and their Stratification in Lung Squamous Cell Carcinoma
  35. Unsupervised machine learning integrates genomic variants and EMR to unravel mechanisms of brain hemorrhage and epilepsy as early indicators of alzheimer’s in down syndrome
  36. Pro‑inflammatory insulin‑resistant lipid phenotype in down syndrome identified by 1H‑NMR metabolomics in obesity-matched African‑American children and young adults
  37. CD71+ erythroid cell expansion in late‐onset systemic lupus erythematosus
  38. Sex as a modifier of genetic risk for type 1 diabetes
  39. Data-informed insights into sex differences in peripheral blood mononuclear cells from single-cell transcriptomics
  40. Poster 236: Genome-Wide Association Study of African and European Populations With Anterior Cruciate Ligament Injury
  41. Natural killer cell subpopulations in the peripheral blood of single ventricle/hypoplastic left heart syndrome patients via single-cell RNA sequencing
  42. Single‐Cell RNA Sequencing of Peripheral Blood Mononuclear Cells in Patients With Single Ventricle/Hypoplastic Left Heart Syndrome
  43. The impact of prematurity on pediatric asthma morbidity and indices with environmental pollution and genetic susceptibility
  44. Sex Specific Genomic Insights into Type 1 Diabetes through GWAS and Single Cell Transcriptome Analysis
  45. Clinical association between asthma and anxiety is unrelated to genetic risk factors
  46. Development and validation of a Trans-Ancestry polygenic risk score for Type 1 Diabetes
  47. Deep learning algorithms reveal genomic markers for anxiety disorder in a large cohort of children with down syndrome
  48. VCL/ICAM-1 pathway is associated with lung inflammatory damage in SARS-CoV-2 Omicron infection
  49. Sex-specific spirometry effects of adult COPD polygenic score in children with asthma
  50. Risk of Alzheimer's disease in Down syndrome: Insights gained by multi‐omics
  51. Genomic variation and impact on the proteins of Mpox virus
  52. A molecular basis for milk allergen immune recognition in eosinophilic esophagitis
  53. The genetic landscape of pediatric postural orthostatic tachycardia syndrome
  54. Characterization of a circulating milk-specific TCR clonotype in a child with EoE milk allergy
  55. Genetic modifiers of asthma response to air pollution in children: An African ancestry GWAS and PM2.5 polygenic risk score study
  56. CRISPR screening reveals SYCP3 as a key driver of metastasis in prostate cancer
  57. O57: Association of polygenic risk scores with disease prevalence in pediatrics: Insights into obesity, asthma, type 1 and type 2 diabetes
  58. Rare variants in cardiomyopathy genes predispose to cardiac injury in severe COVID-19 patients of African or Hispanic ancestry
  59. Genetic Association of Juvenile Idiopathic Arthritis With Adult Rheumatic Disease
  60. BAG3’s dual roles in Parkinson’s disease and cardiomyopathy: benefit or liability?
  61. Companion to: A molecular basis for milk allergen immune recognition in eosinophilic esophagitis
  62. Abstract 4140702: Sex Differences Revealed by Single Cell Transcriptome Analysis of Peripheral Blood Mononuclear Cells in Single Ventricle/Hypoplastic Left Heart Patients
  63. The Role of BAG3 Protein Interactions in Cardiomyopathies
  64. Deciphering protective genomic factors of tumor development in pediatric down syndrome via deep learning approach to whole genome and RNA sequencing
  65. Implications of the non‐neuronal cholinergic system for therapeutic interventions of inflammatory skin diseases
  66. Role ofBAG3protein interactions in cardiomyopathies
  67. Navigating Complexity in Postural Orthostatic Tachycardia Syndrome
  68. Single-cell RNA Sequencing of Peripheral Blood Mononuclear Cells in Patients with Single Ventricle/Hypoplastic Left Heart Syndrome
  69. Characterization of Natural Killer Cell Subpopulations in the Blood of Single Ventricle/Hypoplastic Left Heart Syndrome Patients Using Single-Cell RNA Sequencing
  70. Copy number variations contribute to malignant tumor development in children with serious birth defects
  71. Emerging Role of Soluble Suppression of Tumorigenicity 2 as Biomarker for Acute Exacerbations in COPD Patients
  72. Shared molecular mechanisms and transdiagnostic potential of neurodevelopmental disorders and immune disorders
  73. Target genes regulated by CLEC16A intronic region associated with common variable immunodeficiency
  74. The Genetic Landscape of Pediatric Postural Orthostatic Tachycardia Syndrome
  75. Single-Cell Omics for Transcriptome CHaracterization (SCOTCH): isoform-level characterization of gene expression through long-read single-cell RNA sequencing
  76. CRISPR/Cas9 screenings unearth protein arginine methyltransferase 7 as a novel essential gene in prostate cancer metastasis
  77. NASP gene contributes to autism by epigenetic dysregulation of neural and immune pathways
  78. Revealing novel genomic insights and therapeutic targets for juvenile idiopathic arthritis through omics
  79. Central Conducting Lymphatic Anomalies
  80. Mitochondrial DNA Haplogroup K Is Protective of Autism Spectrum Disorder Risk in Populations of European Ancestry
  81. Single-Cell RNA Sequencing Technologies
  82. Children with Birth Defects Have a Higher Risk of Cancer: Learning from an In-Depth CNV Analysis
  83. A Protective Role of Low Polygenic Risk Score in Healthy Individuals Carrying Attention-Deficit/Hyperactivity Disorder–Associated Copy Number Variations
  84. The Circassians and the Chechens in Jordan: results of a decade of epidemiological and genetic studies
  85. Genomic information of children with malignant brain tumors for the prediction of length of hospitalization
  86. Genomic variants exclusively identified in children with birth defects and concurrent malignant tumors predispose to cancer development
  87. Genetic Scores for Body Weight
  88. CRISPR/Cas9 screenings unearth protein arginine methyltransferase 7 as a novel driver of metastasis in prostate cancer
  89. Using Genetic Information to Predict Alzheimer's Disease Risk Across Different Ethnicities
  90. Trans-ethnic Polygenic Risk Scores for Body Mass Index
  91. TOPORS as a novel causal gene for Joubert syndrome
  92. Precision Medicine
  93. Identification of copy number variants contributing to hallux valgus
  94. BAG3: Nature’s Quintessential Multi-Functional Protein Functions as a Ubiquitous Intra-Cellular Glue
  95. Genome-wide association study of the age of onset of type 1 diabetes reveals HTATIP2 as a novel T cell regulator
  96. International Study on Polygenic Risk Scores for Body Weight Across Different Ethnic Groups
  97. Single Cell RNAseq of Peripheral Blood Mononuclear Cells from Fresh and Stored Blood Samples
  98. Trans-ethnic Genomic Informed Risk Assessment for Alzheimer’s disease: An International Hundred K+ Cohorts Consortium Study
  99. Understanding BAG3 Gene for Creating Targeted Treatments for Dilated Cardiomyopathies
  100. Metabolomic profiling for dyslipidemia in pediatric patients with sickle cell disease, on behalf of the IHCC consortium
  101. Identification of risk variants related to malignant tumors in children with birth defects by whole genome sequencing
  102. Genetic architecture of asthma in African American patients
  103. COVID-19 in pediatrics: Genetic susceptibility
  104. Identification of novel loci in obstructive sleep apnea in European American and African American children
  105. Identification of Novel Loci Shared by Juvenile Idiopathic Arthritis Subtypes Through Integrative Genetic Analysis
  106. Metabolomic profiling of samples from pediatric patients with asthma unveils deficient nutrients in African Americans
  107. Mutation burden analysis of six common mental disorders in African Americans by whole genome sequencing
  108. Burden of rare coding variants reveals genetic heterogeneity between obese and non-obese asthma patients in the African American population
  109. Mendelian randomization study of obesity and type 2 diabetes in hospitalized COVID-19 patients
  110. Expansion of Schizophrenia Gene Network Knowledge Using Machine Learning Selected Signals From Dorsolateral Prefrontal Cortex and Amygdala RNA-seq Data
  111. A genome-wide association meta-analysis identifies new eosinophilic esophagitis loci
  112. Genetic analysis for type 1 diabetes genes in juvenile dermatomyositis unveils genetic disease overlap
  113. Identification of Mitochondrial DNA Variants Associated With Risk of Neuroblastoma
  114. Circulating LIGHT (TNFSF14) and Interleukin-18 Levels in Sepsis-Induced Multi-Organ Injuries
  115. Improved genetic risk scoring algorithm for type 1 diabetes prediction
  116. Application of deep learning algorithm on whole genome sequencing data uncovers structural variants associated with multiple mental disorders in African American patients
  117. Corrigendum
  118. Insights into non-autoimmune type 1 diabetes with 13 novel loci in low polygenic risk score patients
  119. Genetic architecture of type 1 diabetes with low genetic risk score informed by 41 unreported loci
  120. Deep learning prediction of attention-deficit hyperactivity disorder in African Americans by copy number variation
  121. Abstract 2310: Identification of novel essential genes for prostate cancer metastasis by genome scale CRISPR approaches
  122. Combined application of genetic and polygenic risk scores for type 1 diabetes risk prediction
  123. Elevation of Circulating LIGHT (TNFSF14) and Interleukin-18 Levels in Sepsis-Induced Multi-Organ Injuries
  124. Serum levels of the IgA isotype switch factor TGF‐β1 are elevated in patients with COVID‐19
  125. Metabolomic profiling of anaerobic and aerobic energy metabolic pathways in chronic obstructive pulmonary disease
  126. Genetic correlations between COVID-19 and a variety of traits and diseases
  127. New insights into hallux valgus by whole exome sequencing study
  128. Machine Learning Reduced Gene/Non-Coding RNA Features That Classify Schizophrenia Patients Accurately and Highlight Insightful Gene Clusters
  129. Rare Recurrent Variants in Noncoding Regions Impact Attention-Deficit Hyperactivity Disorder (ADHD) Gene Networks in Children of both African American and European American Ancestry
  130. FLNC and MYLK2 Gene Mutations in a Chinese Family with Different Phenotypes of Cardiomyopathy
  131. Association of novel rare coding variants with juvenile idiopathic arthritis
  132. DLL1 and type 1 diabetes with less prominent autoimmune response
  133. Genetic correlations between COVID-19 and a variety of traits and diseases
  134. Interpretation of Maturity-Onset Diabetes of the Young Genetic Variants Based on American College of Medical Genetics and Genomics Criteria: Machine-Learning Model Development
  135. Heparin-binding protein and aggravation/multi-organ damage in severe COVID-19
  136. Mitochondrial DNA haplogroups and risk of attention deficit and hyperactivity disorder in European Americans
  137. COVID-19: Look to the Future, Learn from the Past
  138. Expression Pattern of the SARS-CoV-2 Entry Genes ACE2 and TMPRSS2 in the Respiratory Tract
  139. The Multi-Omics Architecture of Juvenile Idiopathic Arthritis
  140. Genetics of Low Polygenic Risk Score Type 1 Diabetes Patients: rare variants in 22 novel loci
  141. Non-coding structural variation differentially impacts attention-deficit hyperactivity disorder (ADHD) gene networks in African American vs Caucasian children
  142. Integrative Genetics Analysis of Juvenile Idiopathic Arthritis Identifies Novel Loci
  143. The Infection Rate of COVID-19 in Wuhan, China: Combined Analysis of Population Samples
  144. High prevalence of elevated serum liver enzymes in Chinese children suggests metabolic syndrome as a common risk factor
  145. Machine learning reduced gene/non-coding RNA features that classify Schizophrenia patients accurately and highlight insightful gene clusters
  146. FLNC and MYLK2 gene mutations in a Chinese family with different phenotypes of cardiomyopathy
  147. Distinct features of SARS-CoV-2-specific IgA response in COVID-19 patients
  148. Liraglutide Ameliorates Lipotoxicity-Induced Oxidative Stress by Activating the NRF2 Pathway in HepG2 Cells
  149. Role of the ADCY9 gene in cardiac abnormalities of the Rubinstein-Taybi syndrome
  150. Mitochondrial DNA Haplogroups and Susceptibility to Neuroblastoma
  151. Rare Genetic Variants of Large Effect Influence Risk of Type 1 Diabetes
  152. Association of Rare Recurrent Copy Number Variants With Congenital Heart Defects Based on Next-Generation Sequencing Data From Family Trios
  153. Application of ACMG criteria to classify variants in the human gene mutation database
  154. Metabolomics study in COPD
  155. Value of immune factors for monitoring risk of lung cancer in patients with interstitial lung disease
  156. Microduplications at the 15q11.2 BP1–BP2 locus are enriched in patients with anorexia nervosa
  157. Effects of Intranasal Cellulose Powder on Asthma Control in Children With Mild-to-Moderate Perennial Allergic Rhinitis: A Randomized, Placebo-Controlled Trial
  158. Entropy change of biological dynamics in COPD
  159. Nonfunctional pancreatic endocrine tumor in the peripancreatic region in a Chinese patient with multiple endocrine neoplasia type 1
  160. Effect of hypercortisolism on bone mineral density and bone metabolism: A potential protective effect of adrenocorticotropic hormone in patients with Cushing’s disease
  161. Active form of vitamin D ameliorates non-alcoholic fatty liver disease by alleviating oxidative stress in a high-fat diet rat model
  162. A novel AVPR2 gene mutation of X-linked congenital nephrogenic diabetes insipidus in an Asian pedigree
  163. 1,25(OH)2D3 downregulates the Toll-like receptor 4-mediated inflammatory pathway and ameliorates liver injury in diabetic rats
  164. Clostridium difficile infection in diabetes
  165. Gene-Specific Function Prediction for Non-Synonymous Mutations in Monogenic Diabetes Genes
  166. Genome-wide search for exonic variants affecting translational efficiency
  167. A case report of syndrome of inappropriate antidiuretic hormone secretion with Castleman’s disease and lymphoma
  168. Human Coding Synonymous Single Nucleotide Polymorphisms at Ramp Regions of mRNA Translation
  169. Ancestral Effect on HOMA-IR Levels Quantitated in an American Population of Mexican Origin
  170. PNPLA3 Polymorphisms and Liver Aminotransferase Levels in a Mexican American Population
  171. Population-based Risk Factors for Elevated Alanine Aminotransferase in a South Texas Mexican–American Population
  172. Screening for novel lead compounds increasing insulin expression in medullary thymic epithelial cells
  173. Association Between CASP8 and CASP10 Polymorphisms and Toxicity Outcomes With Platinum‐Based Chemotherapy in Chinese Patients With Non‐Small Cell Lung Cancer
  174. Translational genomic medicine: common metabolic traits and ancestral components of Mexican Americans
  175. Ancestry Informative Marker Set for Han Chinese Population
  176. Host susceptibility to tuberculosis: insights from a longitudinal study of gene expression in diabetes [Short communication]
  177. Adiponectin/leptin ratio and Metabolic Syndrome in a Mexican American population
  178. A Genome-Wide Meta-Analysis of Six Type 1 Diabetes Cohorts Identifies Multiple Associated Loci
  179. Decreased expression of ATP6V1H in type 2 diabetes: A pilot report on the diabetes risk study in Mexican Americans
  180. Association Study of Candidate Gene Polymorphisms and Obesity in a Young Mexican-American Population from South Texas
  181. Prevalence of Metabolic Syndrome and Risks of Abnormal Serum Alanine Aminotransferase in Hispanics: A Population-Based Study
  182. The Definition of Insulin Resistance Using HOMA-IR for Americans of Mexican Descent Using Machine Learning
  183. Molecular immunity to mycobacteria: knowledge from the mutation and phenotype spectrum analysis of Mendelian susceptibility to mycobacterial diseases
  184. What did we learn from the genome-wide association study for tuberculosis susceptibility?
  185. Knowledge gaining by human genetic studies on tuberculosis susceptibility
  186. In silico replication of the genome-wide association results of the Type 1 Diabetes Genetics Consortium
  187. Comparative genetic analysis of inflammatory bowel disease and type 1 diabetes implicates multiple loci with opposite effects
  188. Genome-wide profiling using single-nucleotide polymorphism arrays identifies novel chromosomal imbalances in pediatric glioblastomas
  189. Rfx6 directs islet formation and insulin production in mice and humans
  190. Reassessment of the type I diabetes association of the OAS1 locus
  191. Remapping the type I diabetes association of the CTLA4 locus
  192. The type I diabetes association of the IL2RA locus
  193. From Disease Association to Risk Assessment: An Optimistic View from Genome-Wide Association Studies on Type 1 Diabetes
  194. A cis-Acting Regulatory Variant in the IL2RA Locus
  195. Association of RASGRP1 with type 1 diabetes is revealed by combined follow-up of two genome-wide studies
  196. The effect of the MHC locus on autoantibodies in type 1 diabetes
  197. Identification of susceptibility genes for complex diseases using pooling-based genome-wide association scans
  198. The Genetic Basis of Diabetes
  199. Follow-Up Analysis of Genome-Wide Association Data Identifies Novel Loci for Type 1 Diabetes
  200. Association Analysis of Type 2 Diabetes Loci in Type 1 Diabetes
  201. The association between type 1 diabetes and the ITPR3 gene polymorphism due to linkage disequilibrium with HLA class II
  202. A Novel Susceptibility Locus for Type 1 Diabetes on Chr12q13 Identified by a Genome-Wide Association Study
  203. The association between the IFIH1 locus and type 1 diabetes
  204. The IRF5 polymorphism in type 1 diabetes
  205. The TCF7L2locus and type 1 diabetes
  206. A genome-wide association study identifies KIAA0350 as a type 1 diabetes gene
  207. A Common Variant of the PAX2 Gene Is Associated with Reduced Newborn Kidney Size
  208. Toward Further Mapping of the Association Between the IL2RA Locus and Type 1 Diabetes
  209. No association of type 1 diabetes with a functional polymorphism of the LRAP gene
  210. Genetic Control of Alternative Splicing in the TAP2 Gene: Possible Implication in the Genetics of Type 1 Diabetes
  211. Strand bias in complementary single-nucleotide polymorphisms of transcribed human sequences: evidence for functional effects of synonymous polymorphisms
  212. Lack of association of type 1 diabetes with the IL4R gene
  213. Type 1 diabetes and the OAS gene cluster: association with splicing polymorphism or haplotype?
  214. Confirmation of the association of the R620W polymorphism in the protein tyrosine phosphatase PTPN22 with type 1 diabetes in a family based study
  215. Assessing the validity of the association between the SUMO4 M55V variant and risk of type 1 diabetes
  216. Restless Legs Syndrome (RLS) in Uremic Patients Is Related to the Frequency of Hemodialysis Sessions