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Page VariantDetection

This page is intended to collect information about methods for predicting genomic variation in next-generation sequencing data.

Types of variation/polymorphisms

Polymorphism: occurs in > 1% of the population
Variation: otherwise

Rough categories are:
  • Single nucleotide polymorphisms (SNPs), short insertions/deletions (indels)
  • Structural variation: large insertions/deletions, inversions, segmental duplications
  • Copy number variations

All of them are

Section 2



Topic revision: r1 - 22 Jan 2010, AnneKatrinEmde
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