User Tools

Site Tools



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

Link to this comparison view

Both sides previous revision Previous revision
Next revision
Previous revision
genetica:intro [2015/02/23 11:51]
genetica:intro [2020/08/04 10:58] (current)
Line 1: Line 1:
-There is a nice introductory [[|wiki]] to analysis of WES data, a bit outdated, but it is good to understand the basics.+Exomes are these bits of the genome that contain information that codify for proteins
-The broad institute has developed [[|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:+Nice readings:
-Data cleanup: from raw DNAseq sequence reads (FASTQ files) to analysis-ready reads (BAM files) +[[|What can exome sequencing do for you?]], 2011 - nice introduction to the utilities of exome sequencing with a focus for medical geneticscharacterizing monogenic disorders, identification of de novo mutationsin characterizing complex trait disorders and in characterizing cancer.
-Variant discoveryfrom reads (BAM files) to variants (VCF files) +
-Evaluationcallset QCrefinement and preliminary analyses+
genetica/intro.1424692303.txt.gz · Last modified: 2020/08/04 10:48 (external edit)