https://nanoporetech.com/ja/resource-centre/long-read-genome-sequencing-identifies-cryptic-structural-variants-congenital
Long-read genome sequencing identifies cryptic structural variants in congenital aniridia cases
May 7, 2026 - Long-read genome sequencing identifies cryptic structural variants in congenital aniridia cases | Welcome to Oxford Nanopore technologies. Our goal is to...
long readgenome sequencingstructural variantsidentifiescryptic
https://kidsfirstdrc.org/publication/integration-of-transcriptomics-and-long-read-genomics-prioritizes-structural-variants-in-rare-disease/
Integration of transcriptomics and long-read genomics prioritizes structural variants in rare...
Jul 31, 2025 - Rare structural variants (SVs)-insertions, deletions, and complex rearrangements-can cause Mendelian disease, yet they remain difficult to accurately detect...
long readstructural variantsintegrationtranscriptomicsgenomics
https://miat.inrae.fr/publication/naji-hal-05698327/
Integrating structural variants into sequence-based GWAS in dairy cattle using a pangenome and...
structural variantsdairy cattleintegratingsequencebased
https://ourarchive.otago.ac.nz/esploro/outputs/bookChapter/Detecting-Structural-Variants-and-Associated-Gene/9926492977901891
Detecting Structural Variants and Associated Gene Presence–Absence Variation Phenomena in the...
As complete genomes become easier to attain, even from previously difficult-to-sequence species, and as genomic resequencing becomes more routine, it is...
structural variantsin thedetectingassociatedgene
https://nanoporetech.com/es/resource-centre/screening-of-hidden-pathogenic-structural-variants-in-prkn
Screening of hidden pathogenic structural variants in PRKN
May 7, 2026 - Publication: Screening of hidden pathogenic structural variants in *PRKN*
structural variantsscreeninghiddenpathogenicprkn