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Table of Contents
Analysis of Whole-Exome Sequencing Data for the Diagnosis of Peripheral Neuropathies
1. Methods
1.1 Pipeline's description
1.2 Primary Analysis
- For the variants comparison, VCF files were manipulated using bash scripting to:
- Count total number of variants in whole exome and neuropathy-related genes.
- Obtain a list of matching genomic positions in which variants had been founded by both pipelines.
- Statistical metrics reports over variants were generated using VARIANT.
1.3 Coverage Analysis
2. Results
2.1 Primary Analysis
2.2 Coverage Analysis
