Cross-sectional analysis of diagnostic yield from exome and genome sequencing in pediatric and prenatal cases
Genetic Testing Success Varies by Clinic—Here’s Why
This cross-sectional analysis from the CSER consortium examined diagnostic yield from exome and genome sequencing in 3,008 prenatal, neonata…
This study reveals that your odds of getting a genetic diagnosis may depend less on your DNA—and more on where you get tested.
Mendelian Randomization review links Lp(a) to inflammatory protein pathways
Lp(a) may influence heart disease through inflammation pathways
This Mendelian Randomization analysis identifies 521 proteins associated with Lp(a) and 91 downstream proteins in MACE-relevant pathways.
Genetic analysis links Lp(a) to 521 proteins and inflammation pathways that could affect heart disease risk, offering a new mechanistic insi…
Observational Cohort Study Links Dynamic Cardiac Shape to Cardiometabolic Disease Risk in UK Biobank
New Scan Tracks Heart Motion to Predict Disease Risk Better
This observational cohort study abstract analyzes UK Biobank participants to assess dynamic cardiac shape associations with incident cardiom…
How your heart moves during a beat predicts future disease risk better than just measuring its size on a standard scan.
Case report and functional study link MFN2 R334K variant to lethal neonatal disorder and mitochondrial defects
A new gene variant may cause severe, fatal mitochondrial disease in infants
This primary research article describes a case report and functional study involving three siblings with a lethal neonatal disorder.
Scientists found a new genetic change linked to a deadly early-life disorder, but more research is needed before treatments can be tested on…
Case Report and Commentary on PALM3 Variants in Autosomal Recessive Hearing Loss Families
Gene Linked to Inherited Hearing Loss Found in Family Study
This publication combines a case report and commentary regarding a consanguineous family with autosomal recessive, non-syndromic hearing los…
This discovery could help explain some cases of inherited hearing loss that have long stumped doctors.
Genomic and proteomic investigation suggests genetic liability to smoking initiation may protect against Parkinson disease
Could genes tied to smoking start help protect against Parkinson disease?
This genomic and proteomic investigation explores genetic links between smoking traits and Parkinson disease.
Genes linked to starting smoking may lower Parkinson disease risk, pointing to new smoke-free treatment targets without encouraging the harm…
Modeling Study Estimates Polygenic Embryo Screening Risk Reductions in IVF Patients and Egg Donors
New IVF Screening Tool Shows Far Less Benefit Than Promised
This research article presents a modeling study evaluating hypothetical polygenic embryo screening in IVF patients and egg donors.
Real-world IVF struggles make genetic screening far less effective than predicted for lowering future disease risk in children.
Polygenic risk scores for coronary artery disease capture 10.8% to 33.1% of benchmark patients in early-onset CAD cohort
New Test Finds Hidden Heart Risk in Healthy People
This observational cohort study evaluated polygenic risk scores (PRSs) for coronary artery disease in 1,184 early-onset patients with low 10…
A new way to test genetic heart risk shows current scores often miss people who need help.
Polygenic risk scores improve identification of rare variant carriers in idiopathic pulmonary fibrosis patients
Can a genetic test help spot hidden lung disease risks in pulmonary fibrosis patients?
This observational cohort study of 888 IPF patients from the PFF-PR and 472 from the UK PROFILE cohort found that polygenic risk scores (PRS…
A genetic test helps doctors spot hidden disease risks in lung patients by finding rare gene variants that standard history alone might miss…
Observational biobank study compares phenomic and social determinants for disease risk prediction
Your Genes Aren’t Your Destiny: How Your Neighborhood Changes Your Risk
This research article from UK Biobank and other cohorts evaluates phenome-derived polygenic scores and social determinants for predicting as…
Your neighborhood and lifestyle can reshape your genetic risk for diseases like asthma and heart disease, offering a clearer health picture …
GWAS meta-analysis identifies genetic risk loci for female genital tract polyps in women
New DNA clues link common gynecological issues to endometriosis and cancer risks
This GWAS meta-analysis examined 48,400 cases and 477,134 controls across four biobanks to identify risk loci for female genital tract polyp…
A massive DNA study of nearly half a million women reveals genetic links between common gynecological polyps, endometriosis, fibroids, and e…
Meta-analysis identifies shared genetic loci between cannabis use and sleep disorders
Your Brain on Cannabis and Sleep: The Hidden Link
This meta-analysis of All of Us and UK Biobank cohorts investigated genetic correlations between cannabis use and sleep disorders.
Shared genes link cannabis use and sleep problems like insomnia, revealing why millions self-medicate and pointing to new treatment paths.