howrigan / trio_sequence_analysis

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Trio sequence analysis

Table of Contents

overview

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

files

Files used for various analyses

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