Detection of mosaic and population-level structural variants with Sniffles2
Topics
Sniffles2 · Structural variation · long-read sequencing · mosaic structural variants · population-level SV calling · repeat-aware clustering · Consensus sequence · coverage-adaptive filtering · Nanopore sequencing · HiFi sequencing · MECP2 · multiple system atrophy · cingulate cortex · genotyped VCF files · family-level SV calling · bulk long-read data · complex genomic alterations · overlapping SVs · brain tissue mosaicism
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Pepkio Research Index (PRI). Topics and Trends in Most Cited Genomics and Phylogenetic Studies Papers, Class of 2026. https://pri.pepkio.com/top-papers/genomics-and-phylogenetic-studies/2026. Accessed 2026-07-17. Zheng Su, Tinsley Li, Thematic Shifts in Early-High-Impact Cancer Genomics and Diagnostics Research: A Bibliometric and Semantic Analysis. bioRxiv 2026.07.04.736459; doi: https://doi.org/10.64898/2026.07.04.736459

