# Detection of mosaic and population-level structural variants with Sniffles2

*PRI Rank #11 · Topics and Trends in Most Cited Genomics and Phylogenetic Studies Papers, Class of 2026*

*Canonical URL: https://pri.pepkio.com/top-papers/genomics-and-phylogenetic-studies/2026/rank-11*

| Field | Value |
| --- | --- |
| Rank | #11 |
| 18m citations | 196 |
| Journal | Nature Biotechnology |
| Year | 2024 |
| DOI | 10.1038/s41587-023-02024-y |
| Corresponding authors | Fritz J. Sedlazeck |
| Institution | Baylor College of Medicine, United States |

**Ranking page:** [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)

**Paper link:** [10.1038/s41587-023-02024-y](https://doi.org/10.1038/s41587-023-02024-y)

## 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

## Cite this ranking

```
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
```