#GeneticDiagnostics
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sanchezgaya.bsky.social
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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July 10, 2025 at 10:11 PM
jsantoyo.bsky.social
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....
October 27, 2025 at 11:30 AM
nawardalila.bsky.social
www.linkedin.com/posts/nawar8...
Nawar Dalila, PhD on LinkedIn: #gatk #github #genomics #bioinformatics #cnv #geneticdiagnostics…
## Annotate your CNV reports easier with this tool ## Are you frustrated by the challenges of annotating Copy Number Variation (CNV) reports? Accurate CNV…
www.linkedin.com
March 13, 2025 at 9:15 PM
citizenptnewsaz.bsky.social
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
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.
citizenportal.ai
March 4, 2025 at 10:03 AM