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• W3011696475 abstract "Abstract The recent advent of third-generation sequencing technologies brings promise for better characterization of genomic structural variants by virtue of having longer reads. However, long-read applications are still constrained by their high sequencing error rates and low sequencing throughput. Here, we present NanoVar, an optimized structural variant caller utilizing low-depth (8X) whole-genome sequencing data generated by Oxford Nanopore Technologies. NanoVar exhibits higher structural variant calling accuracy when benchmarked against current tools using low-depth simulated datasets. In patient samples, we successfully validate structural variants characterized by NanoVar and uncover normal alternative sequences or alleles which are present in healthy individuals." @default.
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• W3011696475 date "2020-03-03" @default.
• W3011696475 modified "2023-10-17" @default.
• W3011696475 title "NanoVar: accurate characterization of patients’ genomic structural variants using low-depth nanopore sequencing" @default.
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• W3011696475 doi "https://doi.org/10.1186/s13059-020-01968-7" @default.
• W3011696475 hasPubMedCentralId "https://www.ncbi.nlm.nih.gov/pmc/articles/7055087" @default.
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