Fine-mapping analysis identifies thousands of genetic variants contributing to coronary artery disease risk in over one million individuals
Could thousands of tiny genetic changes be driving your heart disease risk?
This genome-wide association study (GWAS) fine-mapping analysis examined genetic contributions to coronary artery disease (CAD) risk in over…
Heart disease risk may be driven by thousands of tiny genetic changes, with about 34,000 variants collectively explaining nearly 4% of the r…
Cardiac genetic testing mainstreaming increases uptake and reduces wait times but lowers informed decision making
Cardiac genetic testing in clinics increased access but reduced informed decision making
An observational study of patients with hypertrophic or dilated cardiomyopathy compared genetic testing offered in cardiology clinics (mains…
Offering genetic testing in cardiology clinics boosted access and cut wait times, yet only 62% of patients felt fully informed compared to 9…
LC-MS/MS method developed for quantifying heparan sulfate in MPS IIIA cerebrospinal fluid
Can a new lab test help track a rare childhood brain disease?
A method development and validation study established a quantitative LC-MS/MS assay for heparan sulfate in cerebrospinal fluid using 12 samp…
A new lab test can precisely measure a damaging sugar molecule in brain fluid to track Sanfilippo syndrome, a rare childhood disease that st…
Observational genomic study of over 500 Indian breast tumors identifies novel mutations and subtypes
Study maps genetic landscape of breast cancer tumors from over 500 patients in India
An observational study analyzed whole-genome and transcriptome data from over 500 treatment-naive breast tumors in India.
A genetic map of breast cancer in over 500 Indian patients reveals new mutations that help tumors evade the immune system and predict recurr…
Genetic variant rs4263114 linked to cleft lip and palate susceptibility in Chinese population
Genetic study identifies variant linked to cleft lip and palate in Chinese population
A genetic association study with functional validation in 2,437 Chinese NSCLP patients and 2,391 unaffected individuals identified rs4263114…
A specific gene variant disrupts cell growth in the face, explaining why some babies are born with cleft lip and palate.
Specific TET2 and DNMT3A mutations drive most CHIP clinical risk in large biobank analysis
Specific blood cell mutations linked to higher disease risk in large biobank study
An observational study of over 1 million individuals across three biobanks found that a discrete subset of enzymatically disruptive mutation…
Certain blood cell mutations linked to heart disease and blood cancers are worse than others, and a new blood test can now measure this spec…
Proteogenomic analysis in sickle cell disease identifies 560 pQTL and prioritizes five proteins for HbF investigation
Study maps genetic links to blood proteins in sickle cell disease patients
An observational proteogenomic analysis of 343 sickle cell disease (SCD) patients identified 560 protein quantitative trait loci (pQTL), inc…
A study of sickle cell disease patients identified 560 genetic links to blood proteins, including 58 new ones, with five proteins potentiall…
Berrylyzer variant prioritization system shows promising performance in two prenatal genetic diagnosis cohorts
Can a new AI tool help find answers for parents during pregnancy?
A cohort study in two real-world prenatal cohorts found Berrylyzer, a novel variant prioritization system, ranked 56.41% and 58.12% of diagn…
A new AI tool ranks the most likely genetic cause of a baby's condition at the top of the list more than half the time during high-risk preg…
Regional motif diversity score in cfDNA predicts pembrolizumab response in head and neck cancer
Can a DNA pattern predict who will heal from head and neck cancer immunotherapy?
A phase II trial in 68 patients with locally advanced, resectable HNSCC found that a regional motif diversity score (rMDS) in cell-free DNA …
A new DNA pattern in blood can reliably predict which head and neck cancer patients will respond to immunotherapy and live longer without th…
Meta-analysis finds pharmacogenomics-guided prescribing may be cost-effective for psychiatric disorders
Can genetic testing for psychiatric medication save money? The evidence is promising but not yet clear
A systematic review and meta-analysis of 17 economic studies in adults with psychiatric disorders found 88% of studies favored pharmacogenom…
Genetic testing for psychiatric drugs hints at savings, but mixed study results mean it's not yet clear if the approach truly cuts costs.
Heparin separator residual plasma shows concordance with standard tubes for cfDNA analysis in feasibility study
Study explores using leftover hospital blood plasma for DNA biobanking
A cohort study of healthy volunteers (n=5-6) and viral PCR-positive patients (n=38) found heparin separator plasma showed high concordance w…
Leftover hospital blood tubes can collect DNA just as well as special tubes if processed quickly, offering a new source for genetic research…
Genetic study identifies 375 shared loci between major depression and multisite chronic pain
Genetic study finds shared genetic links between chronic pain and depression
A genetic association study in European-ancestry individuals found a high degree of polygenic overlap between major depressive disorder and …
A new genetic study reveals 375 shared DNA locations linking chronic pain and depression, highlighting two specific genes active in the brai…