Differences

This shows you the differences between two versions of the page.

--- genetica:intro [2015/02/23 11:51]
vifehe
+++ genetica:intro [2020/08/04 10:58]
@@ Line 1: / Line 1: @@
-There is a nice introductory [[http://seqanswers.com/wiki/How-to/exome_analysis|wiki]] to analysis of WES data, a bit outdated, but it is good to understand the basics.
-The broad institute has developed [[https://www.broadinstitute.org/gatk/|GATK]], a series of bioinformatic tools to analyze NGS data from the bottom.
-As GATK indicates, WES workflow is divided in three main sections that are meant to be performed sequentially:
-Data cleanup: from raw DNAseq sequence reads (FASTQ files) to analysis-ready reads (BAM files)
-Variant discovery: from reads (BAM files) to variants (VCF files)
-Evaluation: callset QC, refinement and preliminary analyses

Detritus Wiki