Mutations and Polymorphisms PDF

Summary

This document provides an overview of mutations and polymorphisms in DNA. It explains how DNA variants are defined in comparison to a reference sequence, particularly in the context of sequencing projects.

Full Transcript

Mutations and Polymorphisms “Nowadays DNA variants are called as differences in comparison to a reference. In a sequencing project Single Nucleotide Polymorphisms (SNPs) and DNA mutations are defined as DNA variants detectable in >1 % or

Mutations and Polymorphisms “Nowadays DNA variants are called as differences in comparison to a reference. In a sequencing project Single Nucleotide Polymorphisms (SNPs) and DNA mutations are defined as DNA variants detectable in >1 % or

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