Published August 19, 2016 | Version v1
Dataset Open

Training material for exome sequencing

  • 1. Department of Computer Science, Albert-Ludwigs-University, Freiburg, Freiburg, Germany Center for Biological Systems Analysis (ZBSA), University of Freiburg, Freiburg, Germany.

Description

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.

Files

GIAB-Ashkenazim-Trio.txt

Files (102.0 MB)

Name Size Download all
md5:1bb54779b6e564062398ca593738d8f2
2.1 MB Download
md5:32b6da238924e0e8c702092891d32ede
31.8 MB Download
md5:e7e4d5774877fb325335c2d4b0a1c015
52.4 kB Download
md5:384ecad45c4f603d1f40baec5f2a0b79
231 Bytes Preview Download
md5:2463b4df4634b99b5ba49bb055e0c446
33.5 MB Download
md5:2a856f42d30fd90efab48f51ebe1293b
34.4 MB Download