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| Status |
Public on Nov 01, 2010 |
| Title |
Homozygosity mapping in a consanguineous family with osteogenesis imperfecta (OI) |
| Organism |
Homo sapiens |
| Experiment type |
SNP genotyping by SNP array
Genome variation profiling by SNP array
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| Summary |
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)
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| Overall design |
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.
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| Contributor(s) |
Martinez-Glez V, Ruiz-Perez VL, Lapunzina P |
| Citation(s) |
20579626 |
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| Submission date |
May 21, 2010 |
| Last update date |
May 24, 2013 |
| Contact name |
Victor Martinez-Glez |
| E-mail(s) |
vmartinezg.hulp@salud.madrid.org
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| Organization name |
HULP
|
| Department |
INGEMM
|
| Street address |
Paseo la Castellana 261
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| City |
Madrid |
| ZIP/Postal code |
28046 |
| Country |
Spain |
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| Platforms (1) |
| GPL8887 |
Illumina Human610-Quad v1.0 BeadChip |
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| Samples (2) |
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| Relations |
| BioProject |
PRJNA126763 |
