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Merge pull request #4 from nvteja/patch-2
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Updated README.md
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naumenko-sa authored Jul 2, 2019
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Expand Up @@ -102,6 +102,16 @@ Current directory should have a list of projects in projects.txt.
* gets coverage from GATK Haplotype calls, freebayes, and platypus
* build excel report based on gemini variants table, variant impacts, coverage information and some other fields.

# 5a. QC checks
* Check the variant count for each sample in project and compare it to historical data.
* If the variant counts are not in the "normal" range - run the coverage report to check for any coverage related issues using the command below

`qsub ~/bioscripts/scripts/bam.coverage.sh -v bam=[bam_file],bed=[path to exome bed file]`

* Generate coverage report for every abormal sample in the project using the command above.
* Report any sample with abnormal coverage.
* In addition to the coverage reports, one can also check multiqc for tr/tv ratio, raw sequence quality etc, and/or run relatedness checks for some families.

# 6. Step 5 in detail

6.1 [Report description](https://docs.google.com/document/d/1zL4QoINtkUd15a0AK4WzxXoTWp2MRcuQ9l_P9-xSlS4/edit?usp=sharing).\
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