Dataset Open Access

Training material for exome sequencing

Grüning, Björn; Erxleben, Anika; Houwaart, Torsten; Batut, Bérénice

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 (102.0 MB)
Name Size
dbSNP_138.hg19.vcf
md5:1bb54779b6e564062398ca593738d8f2
2.1 MB Download
father.bam
md5:32b6da238924e0e8c702092891d32ede
31.8 MB Download
GIAB-Ashkenazim-Trio-hg19.gz
md5:e7e4d5774877fb325335c2d4b0a1c015
52.4 kB Download
GIAB-Ashkenazim-Trio.txt
md5:384ecad45c4f603d1f40baec5f2a0b79
231 Bytes Download
mother.bam
md5:2463b4df4634b99b5ba49bb055e0c446
33.5 MB Download
patient.bam
md5:2a856f42d30fd90efab48f51ebe1293b
34.4 MB Download
4,255
10,191
views
downloads
All versions This version
Views 4,2554,267
Downloads 10,19110,191
Data volume 229.6 GB229.6 GB
Unique views 3,9083,920
Unique downloads 6,2596,259

Share

Cite as