#structuralvariants — Public Fediverse posts

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 v3.1.2 - 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 v3.1.1 - 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

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

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/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

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 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

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

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

Come join our team & help us integrate LC-MS-based lipidomic profiling, genome-wide genotype data, structural genetic variation data, and clinical phenotypes in more than 4,000 Samoan adults from Samoa and American Samoa. #genetics #lipidomics #StructuralVariants cfopitt.taleo.net/careersectio...

Data Scientist III

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 v1.4.0 - 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/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

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/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

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

Pipeline release! nf-core/variantbenchmarking v1.1.0 - 1.1.0 Dark Murakami!

Please see the changelog: https://github.com/nf-core/variantbenchmarking/releases/tag/1.1.0

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

Pipeline release! nf-core/variantbenchmarking v1.1.0 - 1.1.0 Dark Murakami!

Please see the changelog: https://github.com/nf-core/variantbenchmarking/releases/tag/1.1.0

#benchmark #draft #structuralvariants #variantcalling #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 v2.4.0 - 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/variantbenchmarking v1.0.0 - Innocent Pamuk

Please see the changelog: https://github.com/nf-core/variantbenchmarking/releases/tag/1.0.0

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

Pipeline release! nf-core/variantbenchmarking v1.0.0 - Innocent Pamuk

Please see the changelog: https://github.com/nf-core/variantbenchmarking/releases/tag/1.0.0

#benchmark #draft #structuralvariants #variantcalling #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

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

Out today in Gigascience: Exploring the role of polymorphic inter-species structural variants in reproductive isolation and adaptive divergence in Eucalyptus

https://academic.oup.com/gigascience/article/doi/10.1093/gigascience/giae029/7692300

#eucalyptus #genomics #speciation #structuralvariants #evolution

Interested in detecting Structural Variants (SVs) in your genomic data?
Have a look at our 3-day course with @sedlazeck
and @lfpaulin
in December: https://physalia-courses.org/courses-workshops/svs

#Bioinformatics @nanopore
#Genomics #StructuralVariants

Interested in detecting Structural Variants (SVs) in your genomic data?
Have a look at our 3-day course with @sedlazeck
and @lfpaulin
in December: https://physalia-courses.org/courses-workshops/svs

#Bioinformatics @nanopore
#Genomics #StructuralVariants

#SingleCell multi-omics allows functional characterization of #structuralVariants https://www.nature.com/articles/s41587-022-01552-3 "We developed a computational method based on Strand-seq that combines #nucleosome occupancy and structural variation analysis in single cells to identify the functional effects of somatic structural variants in leukemia."