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Data generated in the validation of a large-insert clone DNA microarray covering the entire human genome in tiling path resolution, which we have used to identify copy number variation in human populations. Array performance was extensively tested by a series of validation assays. These included...
ORGANISM(S): Homo sapiens 
Data generated in the validation of a large-insert clone DNA microarray covering the entire human genome in tiling path resolution, which we have used to identify copy number variation in human populations. Array performance was extensively tested by a series of validation assays. These included...
ORGANISM(S): Homo sapiens 
Chromosome 22q11.2 microdeletions impart a high but incomplete risk for schizophrenia. Possible mechanisms include genome-wide effects of DGCR8 haploinsufficiency. In a proof-of-principle study to assess the power of this model, we used high-quality, whole-genome sequencing of nine individuals with ...
Data Access Committee EGAC00001000600
We used high-resolution SNP genotyping to identify regions of genomic gain and loss in the genome of 212 medulloblastomas, a malignant pediatric brain tumor. Focal amplifications of fifteen known oncogenes and focal deletions of twenty known tumor suppressor genes (TSG) were revealed, most not prev...
ORGANISM(S): Homo sapiens 
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