Structural variants in KOLF2.1J iPSCs using PacBio HiFi sequencing
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https://zenodo.org/doi/10.5281/zenodo.15836155
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Summary
LongRead PacBio HiFi Sequenceing
KOLF2.1J iPSC Cell line
T2T-CHM13v2 and GRCh38 were used as the reference
pav (v2.4.6) was used to call deletions, inversion, and insertion
delly (v1.2.9) was used to call duplications
SV smaller than 2,000 bp were filtered
TRF was run on the sequences
column TRF = YES : >=90% of the sequence was made up of TR
column TRF = NO : <90% of the sequence was made up of TR
SVs were intersected with SD annotations from UCSC ( bedtools intersect 90% overlap)
column SD = YES : >=90% of the SV overlapped SD region
column SD = NO : <90% of the SV overlapped SD region
for insertions, the YES or NO is indicative of whether the SV was within the SD region or not (no overlap)
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Zenodo创建时间：
2025-07-08
