Towards population-scale long-read sequencing

W De Coster, MH Weissensteiner… - Nature Reviews …, 2021 - nature.com
Long-read sequencing technologies have now reached a level of accuracy and yield that
allows their application to variant detection at a scale of tens to thousands of samples …

The impact of chromosomal rearrangements in speciation: from micro-to macroevolution

K Lucek, MD Giménez, M Joron… - Cold Spring …, 2023 - cshperspectives.cshlp.org
Chromosomal rearrangements (CRs) have been known since almost the beginning of
genetics. While an important role for CRs in speciation has been suggested, evidence …

Detection of mosaic and population-level structural variants with Sniffles2

M Smolka, LF Paulin, CM Grochowski, DW Horner… - Nature …, 2024 - nature.com
Calling structural variations (SVs) is technically challenging, but using long reads remains
the most accurate way to identify complex genomic alterations. Here we present Sniffles2 …

The long‐standing significance of genetic diversity in conservation

JA DeWoody, AM Harder, S Mathur… - Molecular …, 2021 - Wiley Online Library
Since allozymes were first used to assess genetic diversity in the 1960s and 1970s,
biologists have attempted to characterize gene pools and conserve the diversity observed in …

Comprehensive structural variant detection: from mosaic to population-level

M Smolka, LF Paulin, CM Grochowski, DW Horner… - BioRxiv, 2022 - biorxiv.org
Abstract Long-read Structural Variation (SV) calling remains a challenging but highly
accurate way to identify complex genomic rearrangements. Here, we present Sniffles2 …

Structural variants and speciation: multiple processes at play

EL Berdan, TG Aubier, S Cozzolino… - Cold Spring …, 2024 - cshperspectives.cshlp.org
Research on the genomic architecture of speciation has increasingly revealed the
importance of structural variants (SVs) that affect the presence, abundance, position, and/or …

What have we learned from the first 500 avian genomes?

GA Bravo, CJ Schmitt… - Annual Review of Ecology …, 2021 - annualreviews.org
The increased capacity of DNA sequencing has significantly advanced our understanding of
the phylogeny of birds and the proximate and ultimate mechanisms molding their genomic …

Evolutionary origin of genomic structural variations in domestic yaks

X Liu, W Liu, JA Lenstra, Z Zheng, X Wu, J Yang… - Nature …, 2023 - nature.com
Yak has been subject to natural selection, human domestication and interspecific
introgression during its evolution. However, genetic variants favored by each of these …

Deciphering the exact breakpoints of structural variations using long sequencing reads with DeBreak

Y Chen, AY Wang, CA Barkley, Y Zhang… - Nature …, 2023 - nature.com
Long-read sequencing has demonstrated great potential for characterizing all types of
structural variations (SVs). However, existing algorithms have insufficient sensitivity and …

How important are structural variants for speciation?

L Zhang, R Reifová, Z Halenková, Z Gompert - Genes, 2021 - mdpi.com
Understanding the genetic basis of reproductive isolation is a central issue in the study of
speciation. Structural variants (SVs); that is, structural changes in DNA, including inversions …