The impact of FASTQ and alignment read order on structural variant calling from long-read sequencing data.

ABSTRACT:

Background

Structural variant (SV) calling from DNA sequencing data has been challenging due to several factors, including the ambiguity of short-read alignments, multiple complex SVs in the same genomic region, and the lack of "truth" datasets for benchmarking. Additionally, caller choice, parameter settings, and alignment method are known to affect SV calling. However, the impact of FASTQ read order on SV calling has not been explored for long-read data.

Results

Here, we used PacBio DNA sequencing data from 15 Caenorhabditis elegans strains and four Arabidopsis thaliana ecotypes to evaluate the sensitivity of different SV callers on FASTQ read order. Comparisons of variant call format files generated from the original and permutated FASTQ files demonstrated t

SUBMITTER: Lesack KJ 

PROVIDER: S-EPMC10946394 | biostudies-literature | 2024

REPOSITORIES: biostudies-literature