GEO DataSets

(Submitter supplied) We have benchmarked the performance of cancer CNV calling by six most recent software tools on their detection accuracy, sensitivity, and reproducibility. We also explored the consistency of CNV calling across different orthogonal technologies, including optical mapping and microarrays. Using consensus results from six CNV callers and confirmation from three orthogonal methods, we established a high-confidence CNV call set for the reference sample.

Organism:

Homo sapiens

Type:

Genome variation profiling by SNP array

Platform:

GPL31039

6 Samples

Download data: IDAT, TXT

(Submitter supplied) ABRAXAS2 gene editing by CRISPR-Cas9 nuclease or before editing in heterozygous HFF for UROS inactivation. Fluorescent positive cell sorting for UROS or without cell sorting and large rearrangements confirmation in chromosome 10q.

Organism:

Homo sapiens

Type:

Genome variation profiling by genome tiling array; Genome variation profiling by SNP array

Platform:

GPL31039

3 Samples

Download data: IDAT, XLSX

(Submitter supplied) Multiple variations in olfactory receptor genes are contributing to ASD in females of Arab origin

Organism:

Homo sapiens

Type:

Genome variation profiling by SNP array

Platform:

GPL31039

73 Samples

Download data: IDAT, TXT

(Submitter supplied) This SuperSeries is composed of the SubSeries listed below.

Organism:

Homo sapiens

Type:

Genome variation profiling by array; SNP genotyping by SNP array; Genome variation profiling by high throughput sequencing

Platforms:

GPL11154 GPL31039 GPL18952

194 Samples

Download data: TSV

(Submitter supplied) Recurring genetic abnormalities have been identified in Philadelphia chromosome (Ph)-positive acute lymphoblastic leukemia (ALL). Among them, IKZF1 deletion was associated with poor prognosis in patients treated with imatinib-based or dasatinib-based regimens. However, the molecular determinants for clinical outcomes in ponatinib-treated patients remain unknown. We systematically analyzed genetic alterations in adults with Ph-positive ALL uniformly treated in clinical trials with dasatinib-based regimens or a ponatinib-based regimen and investigated the molecular determinants for treatment outcomes using pretreatment specimens collected from adults with Ph-positive ALL treated with Hyper-CVAD plus dasatinib or ponatinib. more...

Organism:

Homo sapiens

Type:

Genome variation profiling by array; SNP genotyping by SNP array

Platform:

GPL31039

19 Samples

Download data: TXT