Tag: structural variants

A whole-genome analysis of 961 primary prostate tumours reveals recurrent driver alterations, enhancer hijacking at solute carrier genes, and four ...

A high-quality long-read genome assembly of high-erucic-acid rapeseed reveals validated structural variants in key fatty acid metabolism genes, opening new ...

Structural variants—large-scale rearrangements of DNA such as deletions, insertions, duplications, inversions, and translocations—are among the most consequential sources of genetic ...

A hybrid long-read and short-read sequencing study has identified a common CCG repeat in the FAM193B promoter as a genome-wide ...

A study of Trinidadian guppies finds that ancient chromosomal inversions, some millions of years old, are maintained by female preference ...

Researchers have built a 564-gene nanopore adaptive sampling panel that detects Parkinson's disease variants, structural rearrangements, and repeat expansions in ...

Researchers at the Coriell Institute have created a publicly available iPSC resource with HiFi long-read whole-genome sequencing, pharmacogenomic and HLA ...

A new open-access web platform called SV-EViz unifies structural variant consensus generation, benchmarking, and interactive visualization, lowering the technical barriers ...

A Stanford study using optical genome mapping on 73 early-passage induced pluripotent stem cell clones finds that fibroblast-derived lines carry ...

A new study in Theoretical and Applied Genetics shows that GWAS-prioritized marker panels can match or beat full SNP sets ...