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Links from GEO DataSets

Items: 5

1.

Multidimensional PTEN missense variant analysis reveals variant subgroups including potential dominant negatives

(Submitter supplied) Determining the pathogenicity of human genetic variants is a critical challenge, and functional assessment is often the only option. Experimentally characterizing millions of possible missense variants in thousands of clinically important genes will likely require generalizable, scalable assays. We previously developed Variant Abundance by Massively Parallel Sequencing (VAMP-seq), which measures the effects of thousands of missense variants of a protein on intracellular abundance in a single experiment. more...
Organism:
Homo sapiens; Escherichia coli
Type:
Other
Platforms:
GPL18573 GPL21222 GPL24462
9 Samples
Download data: CSV
Series
Accession:
GSE159469
ID:
200159469
2.

Assessment of Variant Abundance by Massively Parallel Sequencing for PTEN and TPMT

(Submitter supplied) Determining the pathogenicity of human genetic variants is a critical challenge, and functional assessment is often the only option. Experimentally characterizing millions of possible missense variants in thousands of clinically important genes will likely require generalizable, scalable assays. Here we describe Variant Abundance by Massively Parallel Sequencing (VAMP-seq), which measures the effects of thousands of missense variants of a protein on intracellular abundance in a single experiment. more...
Organism:
Homo sapiens; Escherichia coli
Type:
Other
Platforms:
GPL21222 GPL24462 GPL18573
20 Samples
Download data: TSV, XLS
Series
Accession:
GSE108727
ID:
200108727
3.

183 breast tumors from the Helsinki Univerisity Central Hospital with survival information

(Submitter supplied) 183 breast tumors from the Helsinki Univerisity Central Hospital with survival information
Organism:
Homo sapiens
Type:
Expression profiling by array
Platform:
GPL6947
183 Samples
Download data: TXT
Series
Accession:
GSE24450
ID:
200024450
4.

Germline PTEN promoter variants affect the expression profile in breast tumors

(Submitter supplied) Comparison of the tumors PTEN promoter variant carrier and non carrier gene expression profiles.
Organism:
Homo sapiens
Type:
Expression profiling by array
Platform:
GPL6947
20 Samples
Download data: TXT
Series
Accession:
GSE22652
ID:
200022652
5.

Targeted Pten deletion plus p53-R270H mutation in mouse mammary epithelium induces aggressive claudin-low and basal-like breast cancer

(Submitter supplied) WAP-Cre:Ptenf/f:p53lox.stop.lox_R270H composite mice were generated by genetic crossing. In these mice, Pten is deleted and a R270H p53 mutation in the DNA binding domain is induced upon expression of Cre recombinase in pregnancy-identified alveolar progenitors. Tumors were characterized by histology, marker analysis, various bioinformatics methods, high-throughput (HTP) FDA-drug screen as well as orthotopic injection to quantify tumor initiating cells (TICs) and tail-vein injection to identify lung-metastasis. more...
Organism:
Mus musculus
Type:
Expression profiling by array
Platform:
GPL6246
31 Samples
Download data: CEL
Series
Accession:
GSE75989
ID:
200075989
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