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
š§¬ Can advanced sequencing technologies bring clarity to genetic variants once deemed uncertain?
š 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
š 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
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/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
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
New NIOO publication: Structural genomic variation and migratory behavior in a wild #songbird
#biodiversity #structuralvariants #birdmigration
https://doi.org/10.1093/evlett/qrad040
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."
Iām a #marine evolutionary ecologist using #genomics and #bioacoustics to understand how š respond to environmental changes like #climatechange #fishing and #conservation strategies.
Iām also interested in #adaptation #speciation #BiodiversityGenomics #StructuralVariants #GenomicForecasting #SexualSelection & #ComplexityScience at large.
Scientific & artistic project TORSKETROMMING (šš„š¶): https://tinyurl.com/mv52tub7
More at my site: https://rebekahoomen.weebly.com/
