geneCNV: germline copy number analysis for targeted exome sequencing

GeneCNV is a command-line software package and Python library designed to use short-read targeted sequencing data to identify copy number across targets. It is intended for analysis across a subset of genes using parameters derived from a predefined set of reference (normal) samples.

• Introduction
  • Install geneCNV
  • Get coverage counts
  • Train the model with normal samples
  • Evaluate samples for CNVs

• Command Line Interface
  • create-matrix
  • train-model
  • evaluate-sample

Indices and tables

• Index
• Module Index
• Search Page