#raredisease — Public Fediverse posts

https://www.europesays.com/ie/681410/ Blood protein profiling could improve rare disease diagnosis #blood #Éire #ExomeSequencing #Gene #Genes #Genetic #GeneticInformation #Genome #Genomic #genomics #Healthcare #IE #Ireland #Laboratory #medicine #Protein #Proteomics #RareDisease #Research #Science

https://www.europesays.com/ch/127437/ Novartis sees another setback, this time with neuromuscular drug #DrugDevelopment #Novartis #Pharmaceuticals #RareDisease #STAT+

Pipeline release! nf-core/raredisease v3.1.2 - 3.1.2 - Princess Peach (patch)!
Call and score variants from WGS/WES of rare disease patients.
Please see the changelog: https://github.com/nf-core/raredisease/releases/tag/3.1.2

#diagnostics #raredisease #snv #structuralvariants #variantannotation #variantcalling #wes #wgs #nfcore #openscience #nextflow #bioinformatics

Pipeline release! nf-core/raredisease v3.1.1 - 3.1.1 - Princess Peach (patch)!
Call and score variants from WGS/WES of rare disease patients.
Please see the changelog: https://github.com/nf-core/raredisease/releases/tag/3.1.1

#diagnostics #raredisease #snv #structuralvariants #variantannotation #variantcalling #wes #wgs #nfcore #openscience #nextflow #bioinformatics

Pipeline release! nf-core/raredisease v3.1.0 - 3.1.0 - Princess Peach!
Call and score variants from WGS/WES of rare disease patients.
Please see the changelog: https://github.com/nf-core/raredisease/releases/tag/3.1.0

#diagnostics #raredisease #snv #structuralvariants #variantannotation #variantcalling #wes #wgs #nfcore #openscience #nextflow #bioinformatics

Base editing approach repairs deadly Dravet syndrome mutation in mice

Gene editing can repair a DNA error in mice that causes Dravet syndrome, a rare, incurable, and potentially…
#NewsBeep #News #Health #Adenine #AU #Australia #Brain #Children #dna #DravetSyndrome #Epilepsy #food #Gene #Genetic #Hospital #Laboratory #MedicalSchool #medicine #MouseModel #Mutation #Neurons #Preclinical #raredisease #research #Syndrome
https://www.newsbeep.com/au/669882/

Pipeline release! nf-core/raredisease v3.0.0 - 3.0.0 - Mario!
Call and score variants from WGS/WES of rare disease patients.
Please see the changelog: https://github.com/nf-core/raredisease/releases/tag/3.0.0

#diagnostics #raredisease #snv #structuralvariants #variantannotation #variantcalling #wes #wgs #nfcore #openscience #nextflow #bioinformatics

Microsoft explores AI assistant for diagnosing rare diseases

https://web.brid.gy/r/https://nerds.xyz/2025/09/microsoft-ai-assistant-diagnosing-rare-diseases/

Pipeline release! nf-core/raredisease v2.6.0 - 2.6.0 - Cacofonix!

Please see the changelog: https://github.com/nf-core/raredisease/releases/tag/2.6.0

#diagnostics #raredisease #snv #structuralvariants #variantannotation #variantcalling #wes #wgs #nfcore #openscience #nextflow #bioinformatics

Pipeline release! nf-core/raredisease v2.5.0 - 2.5.0 - Fulliautomatix!

Please see the changelog: https://github.com/nf-core/raredisease/releases/tag/2.5.0

#diagnostics #raredisease #snv #structuralvariants #variantannotation #variantcalling #wes #wgs #nfcore #openscience #nextflow #bioinformatics

Pipeline release! nf-core/raredisease v2.4.0 - 2.4.0 - Vitalstatistix!

Please see the changelog: https://github.com/nf-core/raredisease/releases/tag/2.4.0

#diagnostics #raredisease #snv #structuralvariants #variantannotation #variantcalling #wes #wgs #nfcore #openscience #nextflow #bioinformatics

Pipeline release! nf-core/raredisease v2.3.0 - 2.3.0 - Getafix!

Please see the changelog: https://github.com/nf-core/raredisease/releases/tag/2.3.0

#diagnostics #raredisease #snv #structuralvariants #variantannotation #variantcalling #wes #wgs #nfcore #openscience #nextflow #bioinformatics