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GenomicsCopy number profiling of primary samples and cell lines of retinoblastoma
While RB1 loss initiates retinoblastoma development, additional somatic copy number alterations (SCNAs) can drive tumor progression. Although SCNAs have been identified with good concordance between studies at a cytoband resolution, accurate identification of single genes for all recurrent SCNAs is ...
EGAS00001001715 | EGA
GenomicsGenome wide association study on coronary heart disease in patients with familial hypercholesterolemia
Mutations in the low-density lipoprotein receptor (LDLR) gene cause familial hypercholesterolemia (FH), a disorder characterized by coronary heart disease (CHD) at young age. We aimed to apply an extreme sampling method to enhance the statistical power to identify novel genetic risk variants for CHD...
EGAS00001000734 | EGA
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