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Albinism Family Array CGH Data

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NIAID Data Ecosystem2026-03-13 收录
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https://www.ncbi.nlm.nih.gov/geo/query/acc.cgi?acc=GSE190026
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The study was carried out to identify copy number variations using array-CGH in family having three children affected with albinism (OCA1B) and the males were affected with ID. Agilent’s SureScan microarray scanner with SurePrint G3 Human CGH, 8x60K array platform was used for the study. The probes used for the experiment was approximately 60000 oligonucleotide, allowing detection of deletions above 200 Kb and duplication above 500 kb in entire human genome. CytoGenomics software used to carryout data analysis revealed CNVs in participants. High quality genomic DNA of participants was used to perform the assay.
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2022-01-11
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