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01_Introduction.md

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Introduction

The following sections will help you to get started.

Overview

fgsv contains tools for gathering evidence for structural variants from aligned reads. The SvPileup tool searches for split read mappings and read pairs that map across breakpoints, emitting verbose information similar to other "piluep" tools for small variant detection, but in this case for structural variation detection. The AggregateSvPileup attempts to aggregate information across "nearby" pileups, which is useful as often the genomic start and end of a breakpoint is not always precise. The tools aim to be as sensitive as possible to find these evidence, but do neither perform structural variation calling nor genotyping.