Phased Assembly Variant Caller. PAV is a tool for discovering variation using assembled genomes aligned to a reference. It supports both phased and unphased assemblies. PAV was …

2023年11月22日 · 染色体结构变异（Structure Variation, SV），指基因组上发生的长度大于50bp的大片段插入 (Insertion, INS)、缺失 (Deletion, DEL)、倒位 (Inversion, INV)、易位 …

此外还有基于长测序读长（Long Reads，LR）、针对一些特定插入突变（MEI/NUMT/VEI）和其他类型的分析方法： LR: PBHoney-NGM，pbsv，Sniffles MEI/NUMT/VEI： …

2023年1月17日 · Long-read sequencing has demonstrated great potential for characterizing all types of structural variations (SVs). However, existing algorithms have insufficient sensitivity …

2018年3月28日 · One way to determine the completeness of an assembly is by detecting its Presence–Absence variations (PAV) with respect to a reference, where PAVs between two …

2023年5月17日 · Long-read sequencing technologies, such as Pacific Bioscience (PacBio) and Oxford Nanopore Technology (ONT), have emerged as superior to short-read sequencing for …

2020年3月5日 · Here we analyze the association of gene PAV with resistance of oilseed rape (Brassica napus) against the important fungal pathogen Verticillium longisporum, as an …

2021年8月20日 · In this study, we discover and characterize several megabase-scale presence-absence variations (PAVs) in the maize genome. Surprisingly, we identify a 3.2 Mb PAV …

2022年5月5日 · Haplotype-phased assemblies (Data and Code Availability) were used to generate a long-read-based inversion callset, using the PAV (Ebert et al., 2021) tool, and …

2023年10月20日 · Presence/absence variation (PAV) is a well-known phenomenon in prokaryotes that was described for the first time in bivalves in 2020 in Mytilus galloprovincialis. The …