When is an SNP not an SNP?

Abstract excerpt

Genomic duplications are important sources of structural change and gene innovation. In humans, the most recent and highly identical sequences (>90% homology, >1 kb long) are known as segmental duplications (SDs). Single-nucleotide variants or single-nucleotide polymorphisms within SDs have not been systematically assessed due to limitations around mapping short-read sequencing data. Single-nucleotide variant...

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• Share to Polymerase Chain Reaction
• Share to Polymorphism, Single Nucleotide
• Share to Sequence Analysis, DNA