Descriptive analysis of extracellular particles in human biofluids from healthy participants
Hidden particles in blood may protect the body
This descriptive study examined circulating particles in biofluids from ten healthy participants.
Scientists spotted whole mitochondria floating in blood and saliva, suggesting they may signal damage or help repair tissue instead of causi…
GROMTools offers near-identical GReX accuracy with 100-fold CPU savings versus PrediXcan and PLINK2
New Tool Speeds Up Gene Activity Predictions 100-Fold
This software tool description benchmarks GROMTools against PrediXcan and PLINK2 using UK Biobank data.
Scientists have built a faster, lighter tool that can predict how genes are turned on in people’s tissues at a scale never possible before, …
Trans-predicted protein levels improve disease heritability explanation and gene prioritization
New Method Finds Hidden Causes of Disease
Researchers utilized a proteome-wide association study to examine how cis- and trans-predicted protein levels relate to various diseases and…
Scientists can now spot disease-causing proteins that old methods missed — a shift that could lead to better treatments for heart disease, d…
GenMetS polygenic score association with cardiometabolic risk in Asian populations
New Genetic Score Predicts Heart Risk Decades Earlier in Asian Populations
This cohort study of 670,952 individuals investigated the association between the GenMetS polygenic score and cardiometabolic risk across th…
A new genetic score developed in young Asian women accurately predicts heart and diabetes risk from childhood through adulthood, filling a m…
LANTERN method identifies ancestry-specific rare-variant associations in African American participants
New Tool Finds Rare Genetic Clues Hidden In Mixed Heritage DNA
This cohort study used the LANTERN method in African American participants from the Jackson Heart Study to examine rare-variant aggregate as…
A new computer method finds rare genetic clues in mixed-heritage DNA that older tests miss, helping doctors understand blood health better.
Optical genome mapping identifies mosaic structural variants in surgically resected epilepsy brain tissue
New mapping tool finds hidden genetic changes in epilepsy
This case series evaluates the utility of optical genome mapping (OGM) in detecting somatic structural variants in patients with epilepsy an…
A new way to map the genome is uncovering complex genetic mutations in brain tissue that standard testing often misses.
Review of genetic risk variants in idiopathic pulmonary fibrosis among non-European individuals shows limited transferability
One Gene Variant Drives Lung Scarring Across All Ancestries
This evaluation is a review focusing on idiopathic pulmonary fibrosis in clinically curated non-European individuals with limited sample siz…
A common gene switch that boosts lung mucus is the top risk factor for pulmonary fibrosis across all ancestries, guiding future testing.
Genetic study of autism in African Americans shows limited transferability of European-derived polygenic scores
Autism genes differ by ancestry—new clues in Black families
This cohort study of 38,483 autistic individuals compared genetic findings between African and European ancestries.
Black children with autism carry different genetic clues than white children, a landmark study shows—meaning better answers and fairer care …
Meta-analysis identifies protein associations with behavioral symptoms in dementia
New Brain Clues Explain Dementia Mood Symptoms
This meta-analysis of brain proteomic profiles from 376 donors synthesized associations between specific proteins and behavioral and psychol…
Anxiety and mood swings in dementia may stem from specific brain proteins, offering real hope for future treatments that target the root cau…
Case report identifies novel CLMN::SYNE3 chimeric transcript in SCA30 family
A Gene Fusion Is Causing A Rare Ataxia In One Family
This research article reports a genetic analysis of a family with spinocerebellar ataxia.
A gene mix-up that creates a faulty protein is the likely cause of a rare, inherited movement disorder in one family, opening a path to a pr…
Retrospective analysis shows PGT for structural rearrangements yields different euploid rates compared to PGT-A or PGT-PV groups
Chromosome Flip Doesn't Always Mean Bad Eggs
This retrospective analysis evaluated couples undergoing preimplantation genetic testing (PGT) for structural rearrangements between January…
A specific type of chromosome change does not lower your chances of having a healthy baby, but the size of the change and which parent carri…
Multi-ancestry meta-analysis identifies X-chromosome loci for heart failure phenotypes
Hidden Heart Failure Risk Found on X Chromosome
This multi-ancestry meta-analysis of the Million Veteran Program and UK Biobank sought X-chromosome loci associated with heart failure.
A new study reveals hidden genetic factors on the X chromosome that may influence heart failure risk.