Cohort study in Portuguese families finds co-segregation of serious mental illnesses and rare CHD2 variant
Do serious mental illnesses share family roots? A rare gene clue emerges.
An observational cohort study of 173 multiplex families from the Portuguese Island Collection found co-segregation of psychotic and mood dis…
A rare gene mutation linked to autism and schizophrenia may also explain why psychotic and mood disorders often appear together in families.
Survey of U.S. adults links religious and political factors to mRNA vaccine attitudes
Why do religious and political beliefs shape how people feel about mRNA vaccines?
An observational survey of 4939 U.S. adults from various religious and non-religious groups found Evangelical Protestants showed less suppor…
A new survey reveals that religious communities, political views, and trust in healthcare are powerful forces shaping how Americans feel abo…
Validation study of an open-source LLM-enabled genetic testing recommendation pipeline in patients with rare genetic aortopathies.
Can an AI tool help doctors spot rare genetic heart risks faster and more accurately?
This validation study evaluated an open-source large language model (LLM) pipeline using retrieval augmented generation (RAG) in 499 patient…
A new AI tool helps doctors spot rare genetic heart risks faster by reading medical notes with 83% accuracy, flagging patients who need gene…
Multi-omics integration identifies candidate genes and cell-type-specific effects in glioma.
Could genetic clues finally pinpoint the right cells to target in deadly brain tumors?
This computational analysis integrated GWAS, bulk tissue, and single-cell multi-omics data to investigate glioma. The study prioritized 11 h…
A new analysis of genetic maps shows deadly brain tumors drive growth by increasing communication between support cells and nerve cells.
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. It identified nove…
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…