New Review published from Diagnostics division headed by Dr. Ashwin Dalal, on the utility of Long-Read Genome Sequencing technology in Health and Disease.

Read the review here: karger.com/cgr/article-...

@kargerpublishers.bsky.social
#structuralvariants #raregeneticdisorders

Over half of pathogenic variants in Emirati families are missing from global databases—highlighting the need for population-specific carrier screening to guide equitable public health strategies. bit.ly/4oISB7G #GIMO #GeneticVariation #RareGeneticDisorders

🧬🩸Today's question! See the answer and explanation on the next slide.

#MECOM #CongenitalThrombocytopenia #BoneMarrowFailure #PediatricHematology #RareGeneticDisorders #IBMFS #RadialAplasia #ClinicalInsights #HemeHub

Navigating life after a rare diagnosis? 💙 Support from @GeneticAll_UK, @Unique_Charity, and @ContactCharity is here. #RareDisease #SpecialNeedsParenting #RareGeneticDisorders #Undiagnosed #SENDSupport #ParentCarer #RareCondition