nstd187 (Hughes et al. 2020)
- Organism:
- Human
- Study Type:
- Collection
- Submitter:
- Timothy Hughes
- Description:
- We enhanced two existing methods (one qPCR-based and one sequencing-based) to enable copy number estimation that discriminates between DEFA1 and DEFA3 genes. We used these methods to quantify A1/A3 copy number variation in 2504 samples from the 1000 Genomes high-coverage dataset as well as performing fiberfiSH assays on selected samples to visualize the haplotypes. These methods produce accurate estimates and show that there are substantial differences between populations. Our findings demonstrate that qPCR can be an accurate method for CNV estimation and that defensins substantially extend the known range of copy number variation for a human protein-coding gene. See Variant Summary counts for nstd187 in dbVar Variant Summary.
- Curatorial Comment:
- PLEASE NOTE: The multicopy nature of the DEFA1/DEFA3 locus makes it difficult to fully represent the variants from this study in dbVar. For detailed information on the nature of the locus and the methods used by the authors to characterize it, please read the associated publication, particularly the Methods section.
- Publication(s):
- Hughes et al. 2020