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

Pipeline release! nf-core/variantbenchmarking v1.5.0 - Vegetarian Han!
Pipeline to evaluate and validate the accuracy of variant calling methods in genomic research
Please see the changelog: https://github.com/nf-core/variantbenchmarking/releases/tag/1.5.0

#benchmark #smallvariants #structuralvariants #variantcalling #nfcore #openscience #nextflow #bioinformatics

Join our research team as a Data Scientist III and help us integrate LC-MS-based comprehensive lipidomic profiling, genomic variation (including structural variation), & clinical phenotypes in more than 4,000 Samoan adults from Samoa and American Samoa.

#Genetics #Lipidomics #StructuralVariants

https://https://cfopitt.taleo.net/careersection/pitt_staff_external/jobdetail.ftl?job=26001182

Join our research team as a Post Doctoral Associate and help us integrate LC-MS-based comprehensive lipidomic profiling, genomic variation (including structural variation), & clinical phenotypes in more than 4,000 Samoan adults from Samoa and American Samoa.

#Genetics #Lipidomics #StructuralVariants

https://cfopitt.taleo.net/careersection/pitt_faculty_external_pd/jobdetail.ftl?job=26001194

Pipeline release! nf-core/variantbenchmarking v1.4.0 - Thin Yasar!
Pipeline to evaluate and validate the accuracy of variant calling methods in genomic research
Please see the changelog: https://github.com/nf-core/variantbenchmarking/releases/tag/1.4.0

#benchmark #smallvariants #structuralvariants #variantcalling #nfcore #openscience #nextflow #bioinformatics

Pipeline release! nf-core/variantbenchmarking v1.3.0 - Solitary Marquez!

Please see the changelog: https://github.com/nf-core/variantbenchmarking/releases/tag/1.3.0

#benchmark #draft #structuralvariants #variantcalling #nfcore #openscience #nextflow #bioinformatics

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

🧬 Can advanced sequencing technologies bring clarity to genetic variants once deemed uncertain?

🔗 Combining long-read DNA and RNA sequencing to enhance molecular understanding of structural variations leading to copy gains. Computational and Structural Biotechnology Journal, DOI: https://doi.org/10.1016/j.csbj.2025.04.031

📚 CSBJ: https://www.csbj.org/

#Genomics #StructuralVariants #LongReadSequencing #RareDisease #PrecisionMedicine #RNAseq #Nanopore #GeneticDiagnostics #NanoporeSequencing #Transcriptomics

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/variantbenchmarking v1.2.0 - 1.2.0 Doubtful Adams!

Please see the changelog: https://github.com/nf-core/variantbenchmarking/releases/tag/1.2.0

#benchmark #draft #structuralvariants #variantcalling #nfcore #openscience #nextflow #bioinformatics