Structural reserve assessment guides selection of rTMS strategies for post-stroke motor dysfunction rehabilitation
New Framework Helps Guide Stroke Recovery Using Magnetic Stimulation
This systematic review synthesizes evidence regarding rTMS modalities for post-stroke motor dysfunction. It concludes that the IHC and Vicar…
A new framework helps doctors choose the best magnetic stimulation strategy to improve movement for patients following a stroke.
CHIP prevalence is 8.5% in adults and associated with higher systemic immune-inflammation index
Large study links blood mutations to heart and lung risks
This meta-analysis of a multi-ancestry cohort of 59,598 adults identifies a 8.5% prevalence of clonal hematopoiesis of indeterminate potenti…
A large study of over 59,000 people found that specific blood mutations, known as CHIP, are linked to heart, lung, and blood cancer risks.
Genome-wide association analysis identifies multiple genetic loci associated with Lyme disease in large cohorts
Genetic markers linked to Lyme disease and its symptoms
This meta-analysis of genome-wide association data from 708,138 individuals identifies several genome-wide significant loci associated with …
A massive study of over 700,000 people identified specific genetic locations linked to Lyme disease and its common symptoms like joint pain.
Partial trisomy 19p13.3-p13.2 linked to microcephaly, hydronephrosis, and hearing loss in first Middle East case
Rare Chromosome Condition Linked to Developmental Delays
This case report and literature review describes a boy with a 6.8 Mb gain at chromosome 19p13.3-p13.2, inherited from a maternal balanced tr…
A boy with a rare extra piece of chromosome 19 had microcephaly, hearing loss, and kidney swelling, a new case report says.
AI-based genomic profiling serves as a tool for hypothesis testing in ovarian cancer liver metastases
AI Genomic Profiling For Ovarian Cancer Liver Spread Still Early
This mini review explores the role of AI-assisted genomic profiling in patients with high-grade serous ovarian cancer and liver metastases. …
AI-assisted genomic profiling for ovarian cancer that has spread to the liver is promising for research, but not yet ready to guide treatmen…
Nightmare frequency and disorder correlate with PTSD and major depressive disorder via shared genetic architecture
Genetic links connect frequent nightmares to depression and PTSD
This meta-analysis of genome-wide association studies identifies a 7.4% SNP-based heritability for nightmare frequency in European participa…
New research finds that the genes linked to frequent nightmares are also connected to depression and post-traumatic stress disorder.
Genetic risk factors and a validated polygenic risk score identify melanoma risk loci
Genetic Risk Factors Linked to Melanoma Development Identified
This meta-analysis of 69,871 cases and 1,616,233 controls identifies 156 independent signals at 116 risk loci for cutaneous melanoma. The st…
Researchers identified over 150 genetic signals linked to melanoma, helping to better understand how genetics influence skin cancer risk.
Ethical standards for informed consent in pediatric cell and gene therapy trials must remain rigorous
Ethical Standards Remain Firm for Children in Gene Therapy Trials
This narrative review of 16 papers examines the ethical landscape of first-in-human cell and gene therapy trials for minors. The authors arg…
New research confirms that high uncertainty in early cell and gene therapy trials does not justify lowering informed consent standards for c…
KCNIP2 and AP3D1 genetic variants colocalise with generalized epilepsy signals in specific neuronal types
Genetic variants in KCNIP2 and AP3D1 linked to epilepsy
This meta-analysis identifies KCNIP2 and AP3D1 as genetic variants associated with generalized epilepsy through cell-type-resolved colocalis…
New research identifies specific genetic markers in the brain that may help scientists find better ways to treat generalized epilepsy.
Machine learning models predict anti-TNF-alpha treatment response in Crohn's disease with C-indices up to 0.883
Machine Learning Helps Predict Success of Crohn's Disease Treatment
This meta-analysis evaluates machine learning models for predicting anti-TNF-alpha therapy response in patients with Crohn's disease. The st…
New machine learning models may help doctors predict how well patients with Crohn's disease will respond to anti-TNF-alpha therapy.
GALC and GBA1 loci are associated with altered enzyme activity ratios in Parkinson's disease
Genetic variants linked to enzyme balance in Parkinson's disease
This meta-analysis of genetic and enzymatic data from 1,290 individuals identifies significant associations between the GALC locus and the g…
New research identifies specific genetic markers that may affect how enzymes work together in people with Parkinson's disease.
m6A modification and METTL3 regulators influence lipid metabolism and progression of NAFLD and atherosclerosis
Scientists Link m6A Gene Changes to Obesity and Fatty Liver
This systematic review examines the role of m6A modification in lipid metabolism and its impact on obesity, NAFLD, and atherosclerosis. The …
A tiny chemical tag on RNA may help explain obesity, fatty liver, and hardening arteries, but the science is still early.
All Genetics & Precision Medicine Articles
- Structural reserve assessment guides selection of rTMS strategies for post-stroke motor dysfunction rehabilitation
- CHIP prevalence is 8.5% in adults and associated with higher systemic immune-inflammation index
- Genome-wide association analysis identifies multiple genetic loci associated with Lyme disease in large cohorts
- Partial trisomy 19p13.3-p13.2 linked to microcephaly, hydronephrosis, and hearing loss in first Middle East case
- AI-based genomic profiling serves as a tool for hypothesis testing in ovarian cancer liver metastases
- Nightmare frequency and disorder correlate with PTSD and major depressive disorder via shared genetic architecture
- Genetic risk factors and a validated polygenic risk score identify melanoma risk loci
- KCNIP2 and AP3D1 genetic variants colocalise with generalized epilepsy signals in specific neuronal types
- Ethical standards for informed consent in pediatric cell and gene therapy trials must remain rigorous
- GALC and GBA1 loci are associated with altered enzyme activity ratios in Parkinson's disease
- AlphaFold3 and qCLASH provide higher structural plausibility for miRNA-mRNA interactions than bioinformatic prediction alone
- Machine learning models predict anti-TNF-alpha treatment response in Crohn's disease with C-indices up to 0.883
- m6A modification and METTL3 regulators influence lipid metabolism and progression of NAFLD and atherosclerosis
- GERD shows strong genetic overlap with internalizing psychiatric disorders like MDD and PTSD
- Unshelled Sunflower Seeds Linked to Tooth Surface Loss in Scoping Review
- Multiomic Integration Prioritizes Guanfacine, Eltrombopag, Encorafenib as Alzheimer Repurposing Candidates
- Intellectual leadership should define authorship rather than textual production in LLM assisted scientific writing
- Genetic variants associated with blood pressure traits in a large admixed population
- Natural products like resveratrol and curcumin regulate mitochondrial biogenesis and mitophagy pathways
- Genetic liability for acute and chronic pancreatitis shows strong correlation and identifies potential drug targets
- Genetic variants associated with stuttering show significant enrichment in genes linked to speech apraxia
- Complex interactions between ecological, molecular, and immunological factors drive viral emergence in tropical regions
- Macrophage pyroptosis drives intestinal inflammation and mucosal barrier impairment in inflammatory bowel disease
- EZH2, CDK1, and AURKA risk score identifies high risk for biochemical recurrence in prostate cancer
- eREACH digital intervention meets non-inferiority for genetic service uptake and anxiety in cancer patients
- ATXN2 repeat lengths of 30 or more correlate with increased ALS risk and shorter diagnosis times
- Multidisciplinary management of a CHD7 gene variant associated with favorable long-term outcomes in CHARGE syndrome
- 253 autism-associated genes identified via rare coding variation in 62,429 individuals
- Somatic passenger mutation burden is associated with hematologic malignancy and mortality in large genomic cohorts
- GWAS identifies 21 unique genes tied to balance, vertigo, and dizziness
- Genetic cause identified in fewer than half of congenital heart disease cases
- SMARCA4 frameshift mutations cause Coffin-Siris syndrome type 4 with high intellectual disability prevalence
- cfDNA-based NIPT demonstrates high sensitivity and specificity for common fetal trisomies during prenatal screening
- Genetic liability for cannabis use is causally linked to increased risk of esophageal and lung cancers
- Multi-trait genome-wide association studies identify 66 novel genetic associations in osteoarthritis using the Trident framework
- Tumor immune microenvironment remodeling in osteosarcoma may influence risk of pathological fractures
- Printing orientation significantly affects mechanical properties and accuracy of 3D-printed dental prostheses
- Continuous ancestry representation boosts power in multi-ancestry meta-analysis for type 2 diabetes
- 78 plasma proteins linked to psoriasis; 12 prioritized as potential drug targets
- Longitudinal multiomics microbiome analysis methods surveyed in systematic mini-review
- Personalized matching fails to improve eating disorder digital program outcomes
- Pharmacogenomic Guided Therapy Improves Blood Pressure Control and Patient Outcomes in Hypertension
- Novel NSF gene variant linked to developmental and epileptic encephalopathy 96 in a fetus
- Genomic selection using SNP chips provides accurate breeding value predictions for goat production traits
- Gene editing in Africa needs a phased, harmonized continental governance framework
- Molecular drivers including DNA damage response and epigenetics contribute to treatment resistance in HPV-positive OPSCC
- Expanded proteomics platform identifies 7,870 pQTLs, 34% novel, in European populations
- No genetic loci reached genome-wide significance for inpatient opioid exposure after joint arthroplasty
- CircRNAs act as signaling hubs for immune checkpoints and indicators of ICI response in lymphoma
- Mechanical stress drives metabolic reprogramming and stromal remodeling in the bladder cancer microenvironment
- SHOX gene deficiency causes Langer mesomelic dysplasia with severe disproportionate short stature and limb hypoplasia
- Multimodal gene prioritization improves predictive performance of polygenic transcriptome risk scores for asthma
- Epigenetic regulation provides a framework for understanding disease heterogeneity and potential precision therapies in osteoarthritis
- SUZ12 variant identified as a genetic cause of overgrowth phenotype and spinal stenosis
- GWAS meta-analysis identifies 44 TIA loci, 19 specific to transient ischemic attack
- 818 consensus loci identify distinct neurodevelopmental, synaptic, and metabolic pathways in schizophrenia and bipolar disorder
- MicroRNAs influence lipid metabolism, inflammation, and fibrosis in nonalcoholic steatohepatitis progression
- 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