Trio sequence analysis

Table of Contents

• Overview
• Files
• DNM calling
• Exome burden
• Geneset enrichment
• Gene enrichment

overview

Files and scripts used for testing enrichment of de novo mutations (DNMs) in schizophrenia probands

files

Files used for various analyses

• DNM list
• Trio counts
• Per-gene mutation expectations
• gene sets

DNM calling

Scripts used to parse VCF file to get DNM calls and run variant annotation

Exome burden

Script for determining exome-wide burden of coding DNMs against control trios and mutation model expectations

Geneset enrichment

Scripts for testing relative enrichment of DNMs in a specific gene set relative to full DNM list

Gene enrichment

Scripts for testing single gene DNM rates against mutation model expectations