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Try out the Genomics Platform by exploring 50x WGS data for an Illumina Platinum HapMap trio processed using the RD-Connect standard analysis pipeline.

Background

We have generated several trios (father-mother-child), using the same three HapMap samples (NA12877, NA12878, NA12882), but for each trio we have spiked-in real causative variants. A clinical description of these pseudo-cases is provided to download below:

1.
Click on Genome-Phenome Analysis Platform and Login with username: test, password: 1234
2.
Start by going to "Filters -> Sample Selection -> Select individual Samples" and add three samples: the individual samples can be selected by typing in CaseNF, CaseNM, CaseNC, but replacing the "N" with the corresponding numbers shown in the phenotypic descriptions file. For example the first trio is Case1F (father), Case1M (mother), Case1C (child).
3.
Once you have entered the IDs, scroll down to the bottom of the screen and see the phenotypic description of the case (Mode of inheritance, and HPO terms) in the "Phenotype" tab.
4.
You can apply more filters before running the query to try to find the causative variants. Video tutorials are available here.