Systematic benchmarking of tools for structural variation detection using short- and long-read sequencing data in pigs.

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Tác giả: Qi Bao, Lingzhao Fang, Sang He, Jicai Jiang, Xingzheng Li, Xiaolu Qu, Bangmin Song, Yueting Tang, Zhonglin Tang, Xintong Yang, Guoqiang Yi

Ngôn ngữ: eng

Ký hiệu phân loại: 623.31 Defense against invasion

Thông tin xuất bản: United States : iScience , 2025

Mô tả vật lý:

Bộ sưu tập: NCBI

ID: 683151

Evaluating diverse structural variation (SV) detection-relevant programs leveraging different algorithms has become a pressing need in humans and farm animals. We addressed this by sequencing five genetically diverse pig individuals (breeds) with short- and long-read DNA-sequencing platforms. We created the SV benchmark set for each breed and assessed the performance of 16 SV calling-relevant tools. Results showed that long-read platforms enabled detecting many SVs missed by short-read platforms with similar precision. Benchmark SVs, mainly 200-500 bp insertions/deletions, had high validation rates. The assembly-based SV calling program SVIM-asm showed superior detection performance and resource consumption. The SVs with more supporting reads, sizes under 1 kb, outside simple repeat area, in low GC content and runs of homozygosity regions, had higher detection accuracy. Alignment-based tools performed well even at 5
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