A recent study expanded and reviewed the molecular spectrum of Usher Syndrome in Lebanon. Six variants including four novel variants in four associated genes were identified in eight families. https://t.co/ujOxkLdXOT #Lebanon #genetics #UsherSyndrome #Usher #genes #raredisease

The #CTGA #database is being updated continuously with published data. Here are...

To address "Eurocentric" bias in current polygenic risk scores used for predicting disease risk, researchers created a new tool, PRS-CSx, which integrates and amplifies genomic data from underrepresented populations. https://t.co/xNFoHm5NAN #polygenic #risk #diseaserisk

The Human Pangenome Project aims to provide a more complete and inclusive variant reference resource by addressing global genomic diversity. Read the article on nature: https://t.co/YoBlWPq6yP #diversity #genomicdiversity #genomics #variants #mutations #ethnic #population

Study utilized data from a large number of Hispanic-Latino individuals in analyzing relations between genetic loci & anthropometric traits, identifying 40 previously unknown genomic regions associated with parameters such as BMI: https://t.co/e0N9o7gt2p #genomics #diversity

The #CTGA database is continuously being updated with published data. Here are...

The Telomere-to-Telomere consortium generated the complete gapless human genome sequence, addressing missing data from the reference sequence published over two decades ago. Check out the study in Science: https://t.co/pfNXJJYTM2 #genomesequencing #humangenome #genetics #Genomics

Research challenges studies linking light alcohol intake with lower risk of cardiovascular disease. Using nonlinear Mendelian randomization, light alcohol consumption was linked to minimal increases in CVD risk: https://t.co/xd8ejHQodQ #alcohol #genetics #cardiovasculardisease

Study on mice with DMD revealed an exhausted muscle stem cell response to damage repair. Reactivation of the molecule Piezo1 was shown to restore stem cell form and response, enhancing muscle regeneration and repair: https://t.co/Q208ToIIew #duchenne #DMD #musculardystrophy

Taq was shown to frequently reject correct bases during DNA duplication, indicating its apparently inefficient nature when selecting bases. This finding could potentially enhance sequencing through modifications of Taq: https://t.co/SyTQAKig1T #dnasequencing #DNA #replication