OMIX007167

1Summary

Title	Somatic Mutations in Arteriovenous Malformations in Hereditary Hemorrhagic Telangiectasia Support a Biallelic Two-Hit Mutation Mechanism of Pathogenesis_1
Description	The data is associated with paper identifying second-hit somatic mutations and somatic loss-of-heterozygosity leading to complete loss of an HHT gene in HHT-associated lesions. Specifically, there is whole genome SNP array data for 20 samples.
Organism	Homo sapiens
Data Type	Other type of Microarray Data
Data Accessibility	Open-access
BioProject	PRJCA029162
Release Date	2025-12-28
Submitter	Douglas Marchuk (evon.debosescarlett@duke.edu)
Organization	Duke University
Submission Date	2024-08-20

2Files & Download

HTTP download speed may be slow. It is highly recommended that you download the dataset using a dedicated FTP tool (such as FileZilla Client).

File ID	File Title	Number/Samples	File Type	File Size	File Suffix	Download
OMIX007167-01	207794460123_R05C01-6001_4-1-0427547619.csv.gz	1	Other type of Microarray Data	54.48 MB	csv.gz	FTP HTTPs
OMIX007167-02	208270860139_R02C01-4677_1E1-1-3553509039.csv.tsv.gz	1	Other type of Microarray Data	54.19 MB	csv.tsv.gz	FTP HTTPs
OMIX007167-03	208270860113_R03C01-4760_1E1-1-3553509032.csv.gz	1	Other type of Microarray Data	54.28 MB	csv.gz	FTP HTTPs
OMIX007167-04	208270860113_R05C01-4670_1E2-1-3553509034.csv.gz	1	Other type of Microarray Data	54.24 MB	csv.gz	FTP HTTPs
OMIX007167-05	208270860036_R02C01-6001_2-1-3553509055.csv.gz	1	Other type of Microarray Data	54.42 MB	csv.gz	FTP HTTPs
OMIX007167-06	208270860113_R01C01-4772_1E1-1-3553509030.csv.gz	1	Other type of Microarray Data	54.16 MB	csv.gz	FTP HTTPs
OMIX007167-07	208270860036_R03C01-6004_1-1-3553509056.csv.gz	1	Other type of Microarray Data	54.37 MB	csv.gz	FTP HTTPs
OMIX007167-08	207794460123_R07C01-6001_13-1-0427547621.csv.gz	1	Other type of Microarray Data	54.63 MB	csv.gz	FTP HTTPs
OMIX007167-09	208270860036_R06C01-4759_1E2-1-3553509059.csv.gz	1	Other type of Microarray Data	54.48 MB	csv.gz	FTP HTTPs
OMIX007167-10	208270860139_R01C01-4676_1E1-1-3553509038.csv.tsv.gz	1	Other type of Microarray Data	54.09 MB	csv.tsv.gz	FTP HTTPs
OMIX007167-11	207794460123_R06C01-6001_12-1-0427547620.csv.gz	1	Other type of Microarray Data	54.61 MB	csv.gz	FTP HTTPs
OMIX007167-12	208270860036_R04C01-6004_2-1-3553509057.csv.gz	1	Other type of Microarray Data	54.36 MB	csv.gz	FTP HTTPs
OMIX007167-13	208270860113_R07C01-4672_1E2-1-3553509036.csv.gz	1	Other type of Microarray Data	54.18 MB	csv.gz	FTP HTTPs
OMIX007167-14	208270860113_R02C01-4764_1E1-1-3553509031.csv.gz	1	Other type of Microarray Data	54.14 MB	csv.gz	FTP HTTPs
OMIX007167-15	208270860139_R03C01-4678_1E1-1-3553509040.csv.tsv.gz	1	Other type of Microarray Data	54.12 MB	csv.tsv.gz	FTP HTTPs
OMIX007167-16	208270860113_R08C01-4675_1E1-1-3553509037.csv.tsv.gz	1	Other type of Microarray Data	54.28 MB	csv.tsv.gz	FTP HTTPs
OMIX007167-17	208270860036_R05C01-4758_2E2-1-3553509058.csv.gz	1	Other type of Microarray Data	54.43 MB	csv.gz	FTP HTTPs
OMIX007167-18	208270860139_R04C01-4679_1E1-1-3553509041.csv.tsv.gz	1	Other type of Microarray Data	54.12 MB	csv.tsv.gz	FTP HTTPs
OMIX007167-19	208270860113_R04C01-4771_1E1-1-3553509033.csv.gz	1	Other type of Microarray Data	54.22 MB	csv.gz	FTP HTTPs
OMIX007167-20	208270860113_R06C01-4671_1E1-1-3553509035.csv.gz	1	Other type of Microarray Data	54.18 MB	csv.gz	FTP HTTPs

3Relevant Publications

Paper Title	Journal Name	Publish Time	Accession	Citing Type
Somatic mutations in arteriovenous malformations in hereditary hemorrhagic telangiectasia support a bi-allelic two-hit mutation mechanism of pathogenesis	American Journal of Human Genetics	2024-10	OMIX007167	Deposit

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