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--- genetica:intro [2015/02/23 11:51]
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-There is a nice introductory [[http://seqanswers.com/wiki/How-to/exome_analysis|wiki]] to analysis of WES data, a bit outdated, but it is good to understand the basics.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 genetics: characterizing monogenic disorders, identification of de novo mutations, in characterizing complex trait disorders and in characterizing cancer.
-Variant discovery: from reads (BAM files) to variants (VCF files)
-Evaluation: callset QC, refinement and preliminary analyses

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