Title: Training material for exome sequencing

Type Dataset Grüning, Björn, Erxleben, Anika, Houwaart, Torsten, Batut, Bérénice (2016): Training material for exome sequencing. Zenodo. Dataset. https://zenodo.org/record/60520

Authors: Grüning, Björn (Department of Computer Science, Albert-Ludwigs-University, Freiburg, Freiburg, Germany Center for Biological Systems Analysis (ZBSA), University of Freiburg, Freiburg, Germany.) ; Erxleben, Anika (Department of Computer Science, Albert-Ludwigs-University, Freiburg, Freiburg, Germany Center for Biological Systems Analysis (ZBSA), University of Freiburg, Freiburg, Germany.) ; Houwaart, Torsten (Department of Computer Science, Albert-Ludwigs-University, Freiburg, Freiburg, Germany Center for Biological Systems Analysis (ZBSA), University of Freiburg, Freiburg, Germany.) ; Batut, Bérénice (Department of Computer Science, Albert-Ludwigs-University, Freiburg, Freiburg, Germany Center for Biological Systems Analysis (ZBSA), University of Freiburg, Freiburg, Germany.) ;

Links

• Item record in Zenodo
• Digital object URL

Summary

Exome sequencing means that all protein-coding genes in a genome are sequenced.

In Humans, there are ~180,000 exons that makes up 1% of the human genome which contain ~30 million base pairs. Mutations in the exome have usually a higher impact and more severe consequences, than in the remaining 99% of the genome.

With exome sequencing, one can identify genetic variation that is responsible for both Mendelian and common diseases without the high costs associated with whole-genome sequencing. Indeed, exome sequencing is the most efficient way to identify the genetic variants in all of an individual's genes. Exome sequencing is cheaper also than whole-genome sequencing. 

For training on exome sequencing data analysis, the Galaxy community proposes two tutorials (https://github.com/bgruening/training-material/tree/master/Exome-Seq). Here, you can find the needed datasets for these tutorials.

More information

• DOI: 10.5281/zenodo.60520

Dates

• Publication date: 2016
• Issued: August 19, 2016

Rights

• https://creativecommons.org/licenses/by/4.0/legalcode Creative Commons Attribution 4.0 International
• info:eu-repo/semantics/openAccess Open Access

Format

electronic resource

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