|
| Status |
Public on Jan 15, 2012 |
| Title |
PeripheralBlood_DBA_Proband_30 [OmniExpress] |
| Sample type |
genomic |
| |
|
| Source name |
PeripheralBlood_DBA_Proband_30
|
| Organism |
Homo sapiens |
| Characteristics |
gender: Female
tissue: Peripheral Blood
relationship to proband: Proband
dba phenotype: DBA
|
| Extracted molecule |
genomic DNA |
| Extraction protocol |
DNA is extracted from WBC pelleted from peripheral blood after RBC lysis in 0.15M NH4Cl. WBC are lysed overnight at 55 °C in WBC lysis solution (Qiagen), and protein precipitated and spun at 4 °C in protein precipitation solution (Qiagen). DNA is preciptated in ethanol, pelleted and resuspended in 10mM Tris EDTA.
|
| Label |
C-Bio; A-DNP
|
| Label protocol |
Standard Illumina Infinium HD protocol
|
| |
|
| Hybridization protocol |
Standard Illumina Infinium HD protocol
|
| Scan protocol |
Standard Illumina scanning protocol on S101 BeadArray reader
|
| Description |
Genomic DNA extracted from peripheral blood was genotyped using Infinium HumanOmniExpress Genotyping BeadChips (Illumina).
Sample name: R3A3-0030
|
| Data processing |
Intensity data were extracted in Genome Studio (v2010.3); SNPs with GenTrain score <0.15 were not called.
Gtype: genotype of this SNP for the sample; Score: GenTrain score indicating how well sample clustered for this locus; Theta: the allelic intensity ratio; B Allele Freq: B allele frequency calculated as theta value for a SNP corrected for cluster position; Log R ratio: normalized intesity ratio for sample marker relative to values of the surrounding clusters
|
| |
|
| Submission date |
Aug 22, 2011 |
| Last update date |
Jan 15, 2012 |
| Contact name |
Jason Eli Farrar |
| E-mail(s) |
jefarrar@uams.edu
|
| Phone |
501-603-1224
|
| Organization name |
University of Arkansas for Medical Sciences
|
| Department |
Pediatrics/Hematology-Oncology
|
| Street address |
1 Children's Way, #512-10
|
| City |
Little Rock |
| State/province |
AR |
| ZIP/Postal code |
72202 |
| Country |
USA |
| |
|
| Platform ID |
GPL13135 |
| Series (1) |
| GSE31575 |
Ribosomal Protein Gene Deletions in Diamond Blackfan Anemia |
|
