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genetica:intro [2015/02/23 11:53]
genetica:intro [2020/08/04 10:58] (current)
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-There is a nice introductory [[|wiki]] to analysis of WES data, a bit outdated, but it is good to understand the basics.+Exomes are these bits of the genome that contain information that codify for proteins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 cleanupfrom raw DNAseq sequence reads (FASTQ files) to analysis-ready reads (BAM files) + 
-  * Variant discovery: from reads (BAM files) to variants (VCF files) +- [[|What can exome sequencing do for you?]], 2011 nice introduction to the utilities of exome sequencing with a focus for medical geneticscharacterizing monogenic disordersidentification of de novo mutations, in characterizing complex trait disorders and in characterizing cancer.
-  * Evaluationcallset QCrefinement and preliminary analyses+
genetica/intro.1424692380.txt.gz · Last modified: 2020/08/04 10:48 (external edit)