Identification of a novel non-coding deletion in Allan-Herndon-Dudley syndrome by long-read HiFi genome sequencing
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https://zenodo.org/records/10957750
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资源简介：
These are the VCF files of structural variant (SV) calls for two sibling patients (II:2 [GMPB009_1] and II:3 [GMPB009_4]) generated by PacBio HiFi long-read genome sequencing.
Sequence reads were processed using the PacBio Human WGS workflow with the human reference genome (hg38), and SVs were identified using 'svpack'.
创建时间：
2024-04-11
