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genetica:intro [2015/02/23 11:51]
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genetica:intro [2020/08/04 10:58]
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-There is a nice introductory [[http://seqanswers.com/wiki/How-to/exome_analysis|wiki]] to analysis of WES data, a bit outdated, but it is good to understand the basics. 
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-The broad institute has developed [[https://www.broadinstitute.org/gatk/|GATK]], a series of bioinformatic tools to analyze NGS data from the bottom. 
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-As GATK indicates, WES workflow is divided in three main sections that are meant to be performed sequentially: 
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-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 
genetica/intro.txt ยท Last modified: 2020/08/04 10:58 (external edit)