nstd31 (Alkan et al. 2009)
- Organism:
- Human
- Study Type:
- Control Set
- Submitter:
- Evan Eichler
- Description:
- We present an algorithm (mrFAST) to comprehensively map next-generation sequence reads, which allows for the prediction of absolute copy-number variation of duplicated segments and genes. We examine three human genomes and experimentally validate genome-wide copy number differences. Our method provides a more accurate assessment of gene content and insight into functional constraint without the limitations of array-based technology. See Variant Summary counts for nstd31 in dbVar Variant Summary.
- Publication(s):
- Alkan et al. 2009