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Training material for exome sequencing

<p>Exome sequencing means that all protein-coding genes in a genome are sequenced.</p> <p>In Humans, there are ~180,000 exons that makes up 1% of the human genome which&nbsp;contain ~30 million base pairs. Mutations in the exome have usually a higher&nbsp;impact and more severe consequences, than in the remaining 99% of the genome.</p> <p>With exome sequencing, one can identify genetic variation that is responsible&nbsp;for&nbsp;both Mendelian and common diseases without the high costs&nbsp;associated with&nbsp;whole-genome sequencing. Indeed, exome sequencing is the&nbsp;most efficient way to&nbsp;identify the genetic variants in all of an individual&#39;s genes.&nbsp;Exome sequencing&nbsp;is cheaper also than whole-genome sequencing.&nbsp;</p> <p>&nbsp;</p> <p>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.</p>

ShareScore

36/100

Overall dataset sharing score

Score breakdown

These five areas show where the dataset supports — or may limit — practical reuse.

Stewardship
4
Harmonization
4
Access
20
Reuse readiness
8
Engagement
0

ScienceDex for faculty

Your academic CV and NIH biosketch

Make your CV in your school's format and your NIH biosketch from it, then download both as Word files.