遇见数据集

Targeted resequencing of the remaining allele in the 22q11 region for 127 patients. 22q11 targeted resequencing

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NIAID Data Ecosystem2026-03-09 收录
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The 22q11.2 deletion syndrome is the most common microdeletion disorder, with wide phenotypic variability. To investigate variation within the non-deleted allele we performed targeted Illumina HiSeq 2000 resequencing of the 22q11.2 region for 127 patients, identifying multiple deletion sizes, and approximately 12 thousand hemizygous variant positions.

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2015-12-18
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