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

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, paramete...

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Bibliographic Details
Main Authors: Kyle J. Lesack, James D. Wasmuth
Format: Article
Language:English
Published: PeerJ Inc. 2024-03-01
Series:PeerJ
Subjects:
Online Access:https://peerj.com/articles/17101.pdf