Structural variants in KOLF2.1J iPSCs using PacBio HiFi sequencing
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https://zenodo.org/doi/10.5281/zenodo.17955237
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Summary
PacBio HiFi Sequenceing
KOLF2.1J iPSC Cell line
T2T-CHM13v2 (hs1) and GRCh38 (hg38) were used as the reference
pav (v2.4.6) was used to call SNVs, INDELs, deletions, inversion, and insertion
https://github.com/EichlerLab/pav?tab=readme-ov-file
delly (v1.2.9) was used to call duplications
https://github.com/dellytools/delly
pass and fail were determined using the tool's default parameters
VEP (v115) was run on raw SNV, INDEL and SVs call on GRCh38
https://www.ensembl.org/vep
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Zenodo创建时间：
2025-12-16
