#structuralvariant — Public Fediverse posts

Structural variation in 1,019 diverse humans based on long-read sequencing

https://www.nature.com/articles/s41586-025-09290-7

#sv #structuralvariant

https://github.com/yangao07/longcallD LongcallD is a local-haplotagging-based variant caller designed for detecting small variants and structural variants (SVs) using long-read sequencing data. It supports both PacBio HiFi and Oxford Nanopore reads. #sv #structuralvariant #calling #mapping #bioinformatics

(via Heng Li on twitter)

truvari v5.0.0 released https://github.com/ACEnglish/truvari/releases/tag/v5.0.0 #sv #structuralvariant

The PR for samtools (visualize CNVs in the #terminal ) was merged today ! #samtools #cnv #sv #structuralvariant #ascii https://github.com/samtools/samtools/pull/1910

The PR for samtools (visualize CNVs in the #terminal ) was merged today ! #samtools #cnv #sv #structuralvariant #ascii https://github.com/samtools/samtools/pull/1910

The PR for samtools (visualize CNVs in the #terminal ) was merged today ! #samtools #cnv #sv #structuralvariant #ascii https://github.com/samtools/samtools/pull/1910

The PR for samtools (visualize CNVs in the #terminal ) was merged today ! #samtools #cnv #sv #structuralvariant #ascii https://github.com/samtools/samtools/pull/1910

The PR for samtools (visualize CNVs in the #terminal ) was merged today ! #samtools #cnv #sv #structuralvariant #ascii https://github.com/samtools/samtools/pull/1910

The future release of #delly2 will contain a 'Pan-genome based SV caller' https://github.com/dellytools/delly/commit/00bdb661f6524623a4da275c0beb4331d8f7d4a3#diff-7e4c9a6f514d8ac9f231bdc1ce58ddae1fa9bdbfb05f7055fc401d71d2039ee0R46 #sv #structuralvariant #pangenome #bioinformatics

https://github.com/PopicLab/cue Cue: a deep learning framework for SV calling and genotyping #structuralVariant #sv

https://www.nature.com/articles/s41592-023-01799-x

"Structural variation across 138,134 samples in the TOPMed consortium"

https://www.biorxiv.org/content/10.1101/2023.01.25.525428v1

#cnv #genomics #structuralVariant #genetics

#cnv #structuralVariant #genomics #bioinformatics A large DUP (~1Mb) quickly found using https://github.com/brentp/goleft and confirmed by looking at the BAM files.

what is the use of the "Pan-Genome k-mer set" in etching ? http://big.hanyang.ac.kr/ETCHING/document.html #SV #genomics #structuralVariant #genetics

Inversion of the day .
#IGV #inversion #SV #structuralVariant

"It's sunday #CNV !" 🍾

#genomics #bioinformatics #structuralVariant #sv #cnv

(made with https://lindenb.github.io/jvarkit/SwingBamCov.html )