An optimized variant prioritization process for rare disease diagnostics: recommendations for Exomiser and Genomiser. #Exome #Genome #Sequencing #GeneticVariants #RareDiseases #GeneticDiagnostics #GenomeMedicine 🧪🧬 🖥️
genomemedicine.biomedcentral.com/articles/10....

This is the result of a truly multidisciplinary team 🧑‍🤝‍🧑🧑‍🤝‍🧑, led by @gp83.bsky.social , @dalyaf.bsky.social and @martinfranke.bsky.social and joined by @radaiglesiaslab.bsky.social and myself for this new chapter.
#GeneticDiagnostics #NonCodingGenome #RareDisease
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Arizona committee approves Senate Bill 1076 for Duchenne muscular dystrophy newborn screening Committee endorses Senate Bill 1076 to facilitate early Duchenne muscular dystrophy testing in newborns.

Arizona is one step closer to revolutionizing healthcare for newborns by including Duchenne muscular dystrophy in the state's screening program, potentially transforming lives through early diagnosis.

Learn more here

#AZ #EarlyScreening #GeneticDiagnostics #ArizonaNewborns #HealthCareAccess