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TranscriptomicsClinically Relevant Copy Number Variations Detected in Cerebral Palsy
Cerebral palsy (CP) represents a group of non-progressive clinically heterogeneous disorders that are characterized by motor impairment and early age-of-onset, frequently accompanied by co-morbidities. The cause of CP has historically been attributed to environmental stressors resulting in brain dam...
ORGANISM(S): Homo sapiens 
2015-07-28 | E-GEOD-70374 | biostudies-arrayexpress
Genomicsena-DATASET-TCAG_HSC-21-02-2017-04:02:43:010-730 - samples
TBD
EGAD00001003187 | EGA
GenomicsWhole-Genome Sequencing Suggests Schizophrenia Risk Mechanisms in Humans with 22q11.2 Deletion Syndrome
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 ...
EGAS00001002344 | EGA
GenomicsDAC for EGAS00001002275
Data Access Committee EGAC00001000600
EGAC00001000600 | EGA
Genomics3a29872b-a736-415c-b42b-d2ee95d79c54 - samples
WGS with linked reads of pediatric glioblastoma. For each patient, blood and tumor tissue were sequenced. For two patients, we also provide sequencing data for the blood of their parents.
EGAD00001005212 | EGA
GenomicsWhole genome sequencing with linked reads of pediatric glioblastoma samples
Pediatric glioblastoma (pGBM) is a lethal cancer with no effective therapies. To understand mechanisms of tumor evolution in this cancer, we performed whole genome sequencing with linked reads on longitudinally resected pGBM samples. Our analyses showed that all diagnostic and recurrent samples were...
EGAS00001003432 | EGA
GenomicsCharbonneau Cancer Institute DAC
Data Access Committee EGAC00001001280
EGAC00001001280 | EGA
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