nstd189 (Perez-Palma et al. 2020)
- Organism:
- Human
- Study Type:
- Case-Control
- Submitter:
- Eduardo Perez-Palma
- Submitter URL:
- https://www.ebi.ac.uk/ena/browser/view/PRJEB33136
- Description:
- We examined a sample of 4,778 individuals (1,929 GSD cases and 2,849 controls) including two European cohorts from Germany (n = 3,702) and one admixed Latin American cohort from Chile (n = 1,076). We detected 4,336 large and rare CNVs events (size > 100 kb, frequency < 1%). CNV burden analysis revealed a significant association of CNVs with GSD, with the strongest effect observed in men with CNVs overlapping lipid metabolism genes. See Variant Summary counts for nstd189 in dbVar Variant Summary.
- Project:
- PRJEB33136
- Publication(s):
- Pérez-Palma et al. 2020