Protocol outlines feasibility study of genomic newborn screening for 100,000 births in England
Newborn Screening Could Catch Rare Diseases Earlier
This study protocol describes a planned investigation into the feasibility and acceptability of offering genomic newborn screening in routin…
A huge new study will test if DNA screening can safely find rare diseases in newborns before symptoms appear.
Proof of concept study uses preSCRIPT framework to annotate prescriptions in UK Biobank
preSCRIPT framework identifies genetic links to drug response in UK Biobank
This proof of concept study utilized the preSCRIPT framework to filter and annotate raw prescription data from the UK Biobank, which include…
A proof of concept study in the UK Biobank used preSCRIPT to find genetic links to how people respond to common medications like warfarin an…
GWAS and Mendelian randomization link aging, rheumatoid arthritis, and herpes zoster via shared MHC signals
Shared genetic link found for aging, arthritis, and shingles
This genomic analysis integrates genome-wide association studies, multi-omics quantitative trait loci, linkage disequilibrium-aware colocali…
A shared genetic signal may explain why aging, rheumatoid arthritis, and shingles often overlap.
Narrative review explores AI's role in anesthesiology education as augmentative tool
AI tools may help teach anesthesia skills but carry real risks of bias and security gaps
This narrative review examines AI-driven technologies in anesthesiology education, including virtual reality simulators and machine learning…
New AI tools for teaching anesthesia skills could personalize learning, yet experts warn of data security risks and the danger of losing tra…
Whole exome sequencing identifies pathogenic variants and genotype-phenotype correlations in osteogenesis imperfecta
New Genetic Clues Explain Why Some Bone Cases Are More Severe
This cohort study evaluated 77 Chinese families with clinically suspected osteogenesis imperfecta using whole exome sequencing and clinical …
A new study of 77 Chinese families found 21 new genetic causes of brittle bone disease and showed that where the error sits in a key protein…
INLA methods identified hypervariable CpG sites faster than MCMC in healthy individuals
Scientists find hidden switches in DNA that may control disease risk
This cohort study involving 158 healthy individuals compared INLA versus MCMC-based methods for identifying hypervariable CpG sites.
Hidden spots in DNA that change with stress and environment may help predict illness long before symptoms appear, offering a new way to trac…
Genome sequencing identified diagnoses in 15% of individuals with unsolved developmental and epileptic encephalopathies
Genome sequencing finds diagnoses in 15% of unsolved epilepsy cases
This cohort study included 242 individuals with unsolved developmental and epileptic encephalopathies who were negative on prior genetic tes…
Genome sequencing identified a molecular diagnosis in 15% of people with unsolved epilepsy who had negative prior genetic testing results.
DIMPLE-GWAS framework identifies 25 latent phenotypes in ~33K European ancestry UK Biobank participants
New method finds 25 hidden brain patterns in 33,000 people
This cohort study applied the DIMPLE-GWAS framework to brain imaging phenotypes in ~33K European ancestry participants from the UK Biobank.
A new genetic method found 25 hidden brain patterns and 104 new gene links in a large UK study of 33,000 participants.
Review evaluates utility of GIRA high-risk genomic criteria across 9 adult conditions in 48279 patients
Genomic risk scores identify 30 percent of adults as high-risk for nine common conditions
This retrospective evaluation reviews the utility of GIRA high-risk criteria, which include monogenic and polygenic genomic components, acro…
A new analysis of nearly 48,000 adults found that genomic risk scores labeled 30.4 percent of people as high-risk for nine common health iss…
Review of ASO treatment for IGHMBP2-related spinal muscular atrophy and Charcot-Marie-Tooth
One treatment may fix rare nerve disease in kids
This narrative review synthesizes evidence from a case series on antisense oligonucleotide treatment for IGHMBP2-related disease.
A rare genetic nerve disease in infants may one day be treated with one targeted therapy that fixes how genes are read in nerve cells.
Review of scRNA-seq applications in non-alcoholic fatty liver disease and hepatocellular carcinoma research
New sequencing tools map liver disease across many species
This narrative review examines the use of single-cell and single-nucleus RNA sequencing in models of non-alcoholic fatty liver disease, fibr…
Scientists used advanced sequencing to study liver disease in humans and animals. This review maps how the disease changes at a cellular lev…
Genome-wide analysis of 1.7 million individuals reveals shared genetic liability across cardiovascular diseases in European and East Asian biobanks
Shared DNA Explains Why Heart Conditions Often Cluster Together
This genome-wide and exome-wide association analysis review synthesizes data from ~1.7 million individuals in European and East Asian bioban…
New research maps shared DNA links across eight major heart conditions, revealing how body weight and metabolism might lower genetic risk fo…