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genetica:intro [2015/02/23 11:51]
vifehe
genetica:intro [2020/08/04 10:58] (current)
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-There is a nice introductory [[http://seqanswers.com/wiki/How-to/exome_analysis|wiki]] to analysis of WES data, a bit outdated, but it is good to understand the basics.+Exomes are these bits of the genome that contain information that codify for proteins
  
-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:+Nice readings:
  
-Data cleanup: from raw DNAseq sequence reads (FASTQ files) to analysis-ready reads (BAM files) +[[http://www.ncbi.nlm.nih.gov/pubmed/21730106|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)