Fine-tuned BioBERT achieves 96% F1-score for named-entity recognition in microbiome literature
Deep Learning Models Improve Accuracy in Microbiome Data Extraction
This methodological meta-analysis evaluated deep learning models for named-entity recognition and entity linking in microbiome literature. A…
New deep learning models show higher accuracy and faster speeds when identifying key terms in complex microbiome research documents.
TLR4 Asp299Gly polymorphism associated with increased infection susceptibility (OR 2.05) and mortality (HR 1.78)
Genetic variations linked to higher risk of severe infections
This systematic review and meta-analysis of 9,196 individuals with TLR4 polymorphisms found that the Asp299Gly variant is associated with si…
Specific genetic markers in the TLR4 gene may increase susceptibility and mortality for those with certain gram-negative bacterial infection…
Genetic Architecture of Pulmonary Artery Diameter and Shared Systemic Vascular Biology
Genetic markers linked to lung artery size in COPD patients
A large-scale meta-analysis identifies 44 independent genetic signals influencing pulmonary artery diameter, highlighting shared pathways wi…
New data links specific genetic markers to the size of pulmonary arteries, potentially helping us understand heart and lung health in COPD.
Actinic keratosis increases melanoma risk while alcohol consumption is associated with lower squamous cell carcinoma risk
Actinic Keratosis Linked to Higher Risk of Melanoma
This meta-analysis of genome-wide association studies evaluates causal relationships between 11 modifiable risk factors and skin cancers. Th…
New research identifies a link between actinic keratosis and melanoma risk while highlighting potential new targets for skin cancer treatmen…
Genetic variants in OSTN and common haplotypes are associated with increased residual pulmonary vascular obstruction
Genetic factors and proteins linked to lung blockage after blood clots
This meta-analysis of genetic variants and plasma metabolites identifies specific loci associated with residual pulmonary vascular obstructi…
New research identifies specific genetic markers and proteins that may influence how much a blood clot blocks lung vessels.
High-resolution HLA variation analysis identifies 1,461 significant associations with immune-mediated disease phenotypes
Genetic Markers Linked to Immune Mediated Diseases in Large Study
This meta-analysis of data from the All of Us Research Program analyzes high-resolution HLA variations across six genetic ancestry groups. T…
A large-scale analysis of over 390,000 people identified thousands of genetic links between specific immune markers and various health condi…
State-aware approaches improve interpretation of gene-environment interactions by focusing on biological states over exposures
New approach improves how we understand gene and environment interactions
This mini-review discusses the conceptual framework of gene-environment (G x E) interactions in genetic epidemiology. The authors argue that…
Researchers propose a new way to interpret how our genes interact with the environment by focusing on biological states rather than just ext…
Autologous iliac bone grafting results in higher bone formation than rhBMP-2 for alveolar cleft reconstruction
Autologous iliac bone shows better results than rhBMP-2 for clefts
This meta-analysis evaluates the efficacy of recombinant human bone morphogenetic protein-2 (rhBMP-2) compared to autologous iliac bone for …
New data suggests that using a patient's own hip bone provides more growth than certain proteins for repairing alveolar clefts.
GCH1 p.Ser80Asn variant associated with increased Parkinson's Disease risk in East Asian populations
Rare GCH1 Variant Raises Parkinson's Risk in East Asians
Researchers investigated the association between the GCH1 p.Ser80Asn genetic variant and Parkinson's Disease risk specifically within East A…
A rare GCH1 gene variant increases Parkinson's disease risk fivefold in East Asian populations, affecting about 1 in 300 people.
Endometriosis genetic risk score tied to pain, cardiometabolic conditions in both sexes
Genetic Risk for Endometriosis Linked to Chronic Pain Conditions
This meta-analysis links an endometriosis polygenic risk score (PRS) to 20 of 29 comorbidities in women and to pain and cardiometabolic cond…
A large genetic study reveals that the same genetic markers linked to endometriosis are also associated with fibromyalgia, migraine, and bac…
Ferroptosis and lipid metabolism dysregulation drive inflammatory responses in elderly patients with hip fractures
New Research Identifies Molecular Drivers in Hip Fracture Recovery
This systematic review synthesizes the role of ferroptosis, lipid metabolism, and genetic regulation in elderly patients with hip fractures.…
Researchers have identified how cell death and lipid metabolism impact recovery for elderly patients with hip fractures and bone tumors.
Circular RNAs regulate hepatic lipid metabolism in NAFLD and MASLD via key signaling pathways
Circular RNAs May Offer New Paths for Fatty Liver Disease
This systematic review synthesizes evidence on circular RNAs (circRNAs) in non-alcoholic fatty liver disease (NAFLD) and metabolic dysfuncti…
New research explores how circular RNAs could serve as important tools for diagnosing and treating fatty liver diseases like NAFLD and MASLD…
All Genetics & Precision Medicine Articles
- Fine-tuned BioBERT achieves 96% F1-score for named-entity recognition in microbiome literature
- Genetic variants in OSTN and common haplotypes are associated with increased residual pulmonary vascular obstruction
- Actinic keratosis increases melanoma risk while alcohol consumption is associated with lower squamous cell carcinoma risk
- Genetic Architecture of Pulmonary Artery Diameter and Shared Systemic Vascular Biology
- TLR4 Asp299Gly polymorphism associated with increased infection susceptibility (OR 2.05) and mortality (HR 1.78)
- High-resolution HLA variation analysis identifies 1,461 significant associations with immune-mediated disease phenotypes
- State-aware approaches improve interpretation of gene-environment interactions by focusing on biological states over exposures
- Autologous iliac bone grafting results in higher bone formation than rhBMP-2 for alveolar cleft reconstruction
- Endometriosis genetic risk score tied to pain, cardiometabolic conditions in both sexes
- GCH1 p.Ser80Asn variant associated with increased Parkinson's Disease risk in East Asian populations
- Ferroptosis and lipid metabolism dysregulation drive inflammatory responses in elderly patients with hip fractures
- Circular RNAs regulate hepatic lipid metabolism in NAFLD and MASLD via key signaling pathways
- Polygenic risk scores validate IL-1 signaling role in childhood asthma, supporting IL1R1 antagonist repurposing
- 19 genome-wide significant loci identify genetic architecture and high correlations with other substance use disorders
- Pfkelch13 mutations occur in 6% of Plasmodium falciparum isolates across various African regions
- Long-read sequencing yields 4.5% more diagnoses in unresolved rare disease cases
- Mechanical shear stress influences endothelial RNA methylation in atherosclerosis and pulmonary arterial hypertension
- Autologous regenerative cell therapy shows 41% cure rate and 55% improvement rate for stress urinary incontinence
- FAM13A variants influence tissue destruction in COPD and fibrotic remodeling in pulmonary fibrosis
- APOA5 p.R223C variant linked to substantially higher fasting triglycerides in a Chinese family
- Host factors influence viral entry and replication in HPIV infected infants, elderly, and immunocompromised individuals
- X chromosome inactivation escape and skewing are discussed in a narrative review covering autoimmune, neurodevelopmental, cardiovascular, and cancer conditions
- Case report and review of duodenal malignant glomus tumor with novel molecular variants
- Narrative review of CRISPR-Cas9 and Fanzor gene therapies for sickle cell disease
- Meta-analysis finds germline LTS and somatic TERT variants are mutually exclusive in thyroid cancer and melanoma
- Meta-analysis identifies rare gene-trait associations across 1.2 million individuals in global biobanks
- Meta-analysis identifies genetic loci and biomarkers for restless legs syndrome in over 1.3 million individuals
- Meta-analysis finds sex-specific genetic variant linked to platelet aggregation
- Meta-analysis links CD40 rs1883832 polymorphism to breast cancer susceptibility
- Systematic review on genetic factors in treatment-resistant schizophrenia
- PRKRA gene variants linked to tinnitus and mild cognitive impairment
- Inclisiran plus usual care improves LDL-C goal attainment after acute coronary syndrome
- Meta-analysis of GWAS data identifies genetic risk factors for inflammatory bowel disease in 125,992 individuals
- Meta-analysis identifies 173 novel genetic loci and shared causal variants across hernia subtypes
- Polygenic Risk Score Ties to Prostate Cancer Aggressiveness
- Meta-analysis links BMI polygenic scores to BMI in Filipino youth with double burden of malnutrition
- Meta-analysis of GWAS in Native Hawaiians and Polynesians identifies 25 trait loci for diabetes and obesity traits
- Systematic Review Finds Circulating miRNAs Show High Diagnostic Accuracy for Breast Cancer
- Mitochondrial engineering enhances CAR-T cell therapy for solid and blood cancers
- Genotype-Guided SSRI Prescribing Shows No Short-Term Benefit but Higher Remission at 6 Months
- Meta-analysis identifies new genetic loci for Alzheimer disease across diverse veteran populations
- Meta-analysis of preclinical models shows enhanced outcomes for focused ultrasound gene therapy in glioblastoma
- Genomically tailored multiagent regimen shows limited efficacy in recurrent glioblastoma
- 1-Hz TMS targeting right dlPFC reduced amygdala reactivity and PTSD symptoms in 50 adults with PTSD symptoms compared with sham
- Review of X chromosome inactivation in women with pathogenic variants and cancer risk
- Qualitative review finds governance gaps limit feasibility of lifelong genomic medicine in US health systems
- Personalized medication regimens improved blood pressure control in 776 hypertensive outpatients over eight weeks
- Protocol outlines feasibility study of genomic newborn screening for 100,000 births in England
- Sex differences in genetic correlation between ischaemic heart disease and depression found in 1.14 million European ancestry individuals
- Proof of concept study uses preSCRIPT framework to annotate prescriptions in UK Biobank
- GWAS and Mendelian randomization link aging, rheumatoid arthritis, and herpes zoster via shared MHC signals
- TNFAIP3 variants show estimated prevalence of 1:2,800 in U.S. autoimmune disease cohorts
- Meta-analysis identifies ancestry-specific and shared genetic loci for restless legs syndrome in diverse populations
- CRISPR SGE platform maps functional impact of 470 IL2RG variants in X-linked severe combined immunodeficiency
- Review evaluates utility of GIRA high-risk genomic criteria across 9 adult conditions in 48279 patients
- Review of ASO treatment for IGHMBP2-related spinal muscular atrophy and Charcot-Marie-Tooth
- DIMPLE-GWAS framework identifies 25 latent phenotypes in ~33K European ancestry UK Biobank participants
- INLA methods identified hypervariable CpG sites faster than MCMC in healthy individuals
- Whole exome sequencing identifies pathogenic variants and genotype-phenotype correlations in osteogenesis imperfecta
- Narrative review explores AI's role in anesthesiology education as augmentative tool
- Genome sequencing identified diagnoses in 15% of individuals with unsolved developmental and epileptic encephalopathies
- GROMTools offers near-identical GReX accuracy with 100-fold CPU savings versus PrediXcan and PLINK2
- Review of scRNA-seq applications in non-alcoholic fatty liver disease and hepatocellular carcinoma research
- Descriptive analysis of extracellular particles in human biofluids from healthy participants
- Genome-wide analysis of 1.7 million individuals reveals shared genetic liability across cardiovascular diseases in European and East Asian biobanks
- Optical genome mapping identifies mosaic structural variants in surgically resected epilepsy brain tissue
- Trans-predicted protein levels improve disease heritability explanation and gene prioritization
- GenMetS polygenic score association with cardiometabolic risk in Asian populations
- LANTERN method identifies ancestry-specific rare-variant associations in African American participants
- Review of genetic risk variants in idiopathic pulmonary fibrosis among non-European individuals shows limited transferability
- Case report identifies novel CLMN::SYNE3 chimeric transcript in SCA30 family
- Genetic study of autism in African Americans shows limited transferability of European-derived polygenic scores
- Meta-analysis identifies protein associations with behavioral symptoms in dementia
- Observational Study Links Latitude and Genetics to Seasonal Affective Disorder Risk in Adults
- Narrative review proposes framework for TWAS signature-matching in drug prioritization
- Review of Swedish SCAD patients notes modest actionable variant yield in exome sequencing data
- Multi-ancestral GWAS identifies 152 RA loci with improved polygenic risk scores for AFR and AMR populations
- Meta-analysis identifies 3,207 novel DNA methylation sites linked to smoking
- Retrospective analysis shows PGT for structural rearrangements yields different euploid rates compared to PGT-A or PGT-PV groups
- Geneticist involvement correlates with higher testing uptake and diagnostic yield in perinatal demise cases
- Multi-ancestry meta-analysis identifies X-chromosome loci for heart failure phenotypes
- Commentary on CalPred calibration performance versus PredInterval in trait prediction
- RADAR pipeline identifies 20 high-confidence retired antigen candidates from 4,664 initial candidates
- GSTM1 and GSTT1 null genotype frequencies in 300 healthy individuals from urban Venezuela
- CDK1, B3GNT7, S100A9, and MMP9 Expression Associated with Thyroid Cancer Prognosis
- Demographic factors influence side preference and completeness in nonsyndromic orofacial clefts across multiethnic cohorts
- Review of multi-omics technologies supporting immune checkpoint inhibitor use in cancer patients
- Observational analysis links fish oil supplements to genetic variants affecting fatty acid traits in UK Biobank
- Unsupervised clustering of glioma RNAseq data shows diagnostic and prognostic potential
- Observational transcriptomic analysis identifies genes associated with knee osteoarthritis severity in older adults
- UK Biobank observational review links gene-diet interactions to gout risk
- Rare CNV dosage associated with Alzheimer's disease risk in exome case-control study
- EBOV-specific gene signature identified in nonhuman primates and human cohorts with Ebola infection
- Narrative review explores conceptual frameworks across RNA worlds
- Polygenic risk score enrichment reduces sample size needs for coronary artery disease and inflammatory bowel disease trials
- Pharmacogenomic adherence low in paediatric cancer despite actionable recommendations
- Cross-sectional analysis of diagnostic yield from exome and genome sequencing in pediatric and prenatal cases
- Mendelian Randomization review links Lp(a) to inflammatory protein pathways
- Menopausal transition and testosterone linked to X chromosome inactivation skew in females
- Meta-analysis identifies germline susceptibility loci for rare cancers including MDS and GIST
- Observational study abstract reports AI RNA sequencing diagnostic accuracy in multiple sclerosis and neuromyelitis optica
- Case Report and Commentary on PALM3 Variants in Autosomal Recessive Hearing Loss Families
- Case report and functional study link MFN2 R334K variant to lethal neonatal disorder and mitochondrial defects
- Observational Cohort Study Links Dynamic Cardiac Shape to Cardiometabolic Disease Risk in UK Biobank
- Modeling Study Estimates Polygenic Embryo Screening Risk Reductions in IVF Patients and Egg Donors
- Genomic and proteomic investigation suggests genetic liability to smoking initiation may protect against Parkinson disease
- Observational biobank study compares phenomic and social determinants for disease risk prediction
- Polygenic risk scores for coronary artery disease capture 10.8% to 33.1% of benchmark patients in early-onset CAD cohort
- Polygenic risk scores improve identification of rare variant carriers in idiopathic pulmonary fibrosis patients
- Rare LOXL1 variants associated with exfoliation syndrome and secondary glaucoma risk in US cohorts
- Observational study suggests colibactin mutations are enriched in rectum regardless of polyp status
- Review evaluates psychometric properties of Swedish autism-specific and general genetic counselling outcome measures
- Observational study links inherited genetic variants to young-onset lung cancer risk
- Multi-omics data integration in Spanish psychiatric patients and controls
- GWAS meta-analysis identifies genetic risk loci for female genital tract polyps in women
- Meta-analysis identifies shared genetic loci between cannabis use and sleep disorders
- Narrative review examines AI-enabled approaches versus traditional genetic mapping in plant trait studies
- Subcutaneous RBD4059 safely suppresses FXI activity in healthy volunteers for up to 6 months
- LDeconv method reduces false discoveries and preserves true associations in UK Biobank data analysis
- Meta-analysis of ABCD Study data links genetic variants to timing of substance use initiation in adolescents
- Mendelian randomization suggests loneliness causally increases schizophrenia and major depressive disorder risk
- Cross-trait analyses reveal complex genetic overlaps between cortical morphology and psychiatric disorders
- APOE epsilon4 allele frequencies vary widely across Indian populations with implications for dementia risk assessment
- Detection of TP53 variants distinguishes germline and somatic clonal expansions with associated cancer risk in UK Biobank participants
- Case series and literature review expands phenotypic spectrum of germline PIGA variants
- Observational study finds no association between ZFHX3 GGC repeat expansions and ALS risk
- GWAS identifies six genetic loci associated with Tourette syndrome in European ancestry populations
- GLP1R locus variants associated with higher BMI and Type 2 Diabetes risk in genetically inferred European ancestry participants
- Sex-stratified multi-omic integration identifies specific molecular candidates and pathways in Parkinsons disease
- Whole-genome sequencing of fathers with children with developmental disorders shows sperm mutation burden indistinguishable from controls
- Whole-genome sequencing reveals variant enrichment patterns in Emirati inherited retinal disease cohorts
- Epigenome-wide study identifies methylation differences in monozygotic and dizygotic twins discordant for nonsyndromic cleft lip with or without cleft palate
- Computational platform expands genetic screening scope in high-consanguinity Gulf populations
- Genomic and functional analyses address missing heritability in HDGC-like families lacking CDH1 and CTNNA1 variants
- Methodological analysis reveals biases in heritability estimates from ultra-rare variants in UK Biobank data
- Melanoma cell subpopulations identified; EIF5A linked to poor outcomes in observational cohort
- Reni-cel gene therapy shows transfusion independence in small phase 1-2 trial for β-thalassemia
- Genetic correlation between kidney function and Alzheimer disease is absent in European and African ancestry cohorts
- Mexican cohort study reports allele frequencies for six obesity-associated genetic variants
- Case report links biallelic WDR91 variants to impaired endosomal maturation and autophagy in neurodevelopmental disorder
- JAK1 loss-of-function variants linked to Epidermodysplasia verruciformis and cutaneous HPV susceptibility
- Fine-mapping analysis identifies thousands of genetic variants contributing to coronary artery disease risk in over one million individuals
- Multi-omics integration identifies candidate genes and cell-type-specific effects in glioma
- DNM1-related disorder shows phenotypic homogeneity and variant clustering in 95 individuals
- Multivariate GWAS identifies 248 loci for internalizing disorder and 591 for major depressive disorder in millions of participants
- Meta-analysis of GEO datasets identifies specific gene expression alterations in aflatoxin-associated intrahepatic cholangiocarcinoma
- Validation study of an open-source LLM-enabled genetic testing recommendation pipeline in patients with rare genetic aortopathies
- Survey of U.S. adults links religious and political factors to mRNA vaccine attitudes
- Cohort study in Portuguese families finds co-segregation of serious mental illnesses and rare CHD2 variant
- Database analysis finds ancestry-based disparities in variant classification for monogenic diabetes genes
- Phenotype database PAVS shows utility for gene prioritization in rare disease cases
- Russian FSHD registry shows moderate inverse correlation between D4Z4 repeats and clinical severity
- Proteogenomic analysis in sickle cell disease identifies 560 pQTL and prioritizes five proteins for HbF investigation
- Genetic variant rs4263114 linked to cleft lip and palate susceptibility in Chinese population
- Pilot nationwide carrier screening in Singapore identifies 0.9% of couples at increased risk
- LC-MS/MS method developed for quantifying heparan sulfate in MPS IIIA cerebrospinal fluid
- Cardiac genetic testing mainstreaming increases uptake and reduces wait times but lowers informed decision making
- Social risk factors show larger effect sizes than polygenic risk scores for bipolar disorder in cohort study
- Observational genomic study of over 500 Indian breast tumors identifies novel mutations and subtypes
- TBC1D7 CCG expansions identified as new genetic cause in oculopharyngodistal myopathy families
- Specific TET2 and DNMT3A mutations drive most CHIP clinical risk in large biobank analysis
- Population study links PALB2 variants to increased cancer risk and mortality in two large cohorts
- Berrylyzer variant prioritization system shows promising performance in two prenatal genetic diagnosis cohorts
- Regional motif diversity score in cfDNA predicts pembrolizumab response in head and neck cancer
- Heparin separator residual plasma shows concordance with standard tubes for cfDNA analysis in feasibility study
- Meta-analysis finds pharmacogenomics-guided prescribing may be cost-effective for psychiatric disorders
- Case report describes complex FBRSL1 variant in infant with developmental and epileptic encephalopathy
- Genetic study identifies 375 shared loci between major depression and multisite chronic pain
- RD-Embed framework shows improved rare-disease diagnostic retrieval in computational study
- GWAS identifies 282 insulin resistance loci, links to fat distribution and candidate mediators
- Non-invasive PGT method shows diagnostic concordance with invasive biopsy in monogenic disease families
- Qualitative study finds knowledge gaps and insurance concerns about prostate cancer genetic testing
- SPG4 frequency is 33.3% in Central Chinese HSP families with 7 novel SPAST variants identified
- LOC100130476 rs80213143 variant associated with SLE susceptibility and renal involvement in Chinese Han cohort
- FRMPD4 gene variants associated with prelingual hearing loss in two families, cross-species studies show
- Genetic factor in BCAA metabolism linked to type 2 diabetes and coronary artery disease risk
- HLA-Resolve workflow validated for high-resolution HLA typing in 32 diverse samples
- Novel TGFBR2 variant E431K disrupts TGF-beta signalling in Loeys-Dietz syndrome case
- Genetic prevalence estimates for 22 autosomal recessive conditions show wide carrier frequency range
- GWAS meta-analysis finds female-specific adiposity genetics linked to endometrial cancer risk
- Combined tumor markers and CT imaging show high sensitivity for solitary pulmonary nodule malignancy
- Early age onset predicts MACE in pediatric cardiomyopathy patients with TTN variants
- Systematic review finds first FDA-approved CRISPR therapy and broader clinical trial exploration
- Review examines reference gene selection methods for qRT-PCR normalization in cancer research
- Case report identifies PQBP1 variant in Chinese boy with Renpenning syndrome features
- Prime editing therapy shows early neutrophil activity in two patients with p47-deficient CGD
- Extended goal-directed fluid therapy shows no benefit for complications after esophagectomy in single-center trial
- Meta-analysis identifies two genomic loci associated with antidepressant non-response in 135,471 individuals