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题目:: Homozygosity mapping in a consanguineous family with osteogenesis imperfecta (OI)
ID:
状态:: 发布时间Nov. 1, 2010 , 更新时间 June 10, 2011 , 提交时间 May 20, 2010,
物种:: Homo sapiens
摘要:: Homozygosity mapping using genome-wide SNP arrys is a useful tool to map causative genes of mendelian disorders in consanguineous patients To search for LOH (loss of heterozygosity) regions we hybridized genomic DNA from a OI patient and a normal sibling against Human610quad beadarrays from Illumina (www.illumina.com). Genotyping data was analyzed with BeadStudio software (www.illumina.com) Genomic DNAs from OI affected individual and non-affected sibling were hybridized each on an Illumina Human610Quad Genotyping BeadChip. Image data was analyzed using Beadstudio 3.1.3 software. CNV and LOH (larger than 1 Mb) analysis was performed using the cnvPartition 2.3.4. It was considered as a region of interest those showing LOH in the affected individual but not in the non-affected sibling.
实验种类:: genotyping by array, comparative genomic hybridization by array
样本量:: 2
实验设计:
: 无设计数据
数据号:: E-GEOD-21958, GSE21958
数据状态:: 无法自动分析，您可以尝试手动分析数据。

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