In this tutorial, you will look for deleterious genes in the Caucasian/Utah/Mormon father-mother-daughter trio data from the NIST Genome in a Bottle project. This is commonly referred to as the “CEPH Trio.”

No data are provided for Part A of the tutorial. The samples consist of 2 × 150 bp paired end Illumina reads for NA12891 (father), NA12892 (mother) and NA12878 (daughter). The data set used for assembly is 160 GB in size and requires cloud assembly to perform. Because of this, you will simply read through the steps used to create the whole genome reference-guided assembly in SeqMan NGen. In Part B, you will download the much-smaller finished assembly and follow along with the downstream analysis in ArrayStar.

Begin with Part A: Setting up the assembly in SeqMan NGen.

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