Study

Platelet_collagen_defect

Study ID Alternative Stable ID Type
EGAS00001000105 Other

Study Description

As part of the Bloodomics collaboration we have several categories of pedigrees with diseases/syndromes relevant to cardiovascular diseases (CVD). One such pedigree, is from families who have a platelet collagen defect. Exome sequencing has been performed as part of a discovery program to ascertain potential causative variants of the clinical phenotype.

Study Datasets 1 dataset.

Click on a Dataset ID in the table below to learn more, and to find out who to contact about access to these data

Dataset ID Description Technology Samples
EGAD00001000039
Platelet collagen defect
Illumina Genome Analyzer II,Illumina HiSeq 2000 11

Who archives the data?

There are no publications available