High rate of mutation and efficient removal by selection of structural variants from natural populations of <i>Caenorhabditis elegans</i>.

ABSTRACT: The importance of genomic structural variants (SVs) is well-appreciated, but much less is known about their mutational properties than of single nucleotide variants (SNVs) and short indels. The reason is simple: the longer the mutation, the less likely it will be covered by a single sequencing read, thus the harder it is to map unambiguously to a unique genomic location. Here we report SV mutation rate estimates from six mutation accumulation (MA) lines from two strains of C. elegans (N2 and PB306) using long-read (PacBio) sequencing. The inferred SV mutation rate ~1/10 the SNV rate and ~1/4 the short indel rate. We identified 40 mutations, and removed 52 false positives (FP) by manual inspection of each SV call. Excluding one atypical line (5 mutations, 35 FPs), the signal (inferre

SUBMITTER: Saxena AS 

PROVIDER: S-EPMC11974759 | biostudies-literature | 2025 Mar

REPOSITORIES: biostudies-literature