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f55c7ef3-bc0e-4a9f-842b-dd4094ce327e - samples

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NIAID Data Ecosystem2026-03-12 收录
下载链接:
https://www.omicsdi.org/dataset/ega/EGAD00001006171
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资源简介:
Germline blood DNA sequencing data generated in routine diagnostics of hereditary cancer using the I2HCP gene panel (~135 genes). There are 130 samples sequenced in a MiSeq machine and 108 sequenced in a HiSeq machine. There is a partial overlap between those two sets, meaning that some samples were sequenced in both machines. There is a strong enrichment in samples with copy-number variants (CNV), both single- and multi-exon, since this dataset was compiled for a benchmarking effort of CNV calling tools for genetic diagnostics.EGA dataset EGAD00001006171
创建时间:
2020-08-31
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