File:Fig2 Tsai JofPersMed2016 6-1.png

Figure 2. Bioinformatics Workflow. Our process is divided into four major phases. During this process, there are three trigger points that require manual hands-on time: (1) Alignment and Variant Calling; (2) Annotation and Upload to Oracle SQL; and (3) Variant Filtration. Segmenting these processes offer the ability to check the data integrity throughout this process and the flexibility of utilizing parts of these scripts for processing a non-standard clinical or research sample.

Tsai, E.A.; Shakbatyan, R.; Evan, J.; Rossetti, P.; Graham, C.; Sharma, H.; Lin, C.-F., Lebo, M.S. (2016). "Bioinformatics workflow for clinical whole genome sequencing at Partners HealthCare Personalized Medicine". Journal of Personalized Medicine 6 (1): 12. doi:10.3390/jpm6010012. PMC PMC4810391. PMID 26927186. https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4810391. 

2016

Tsai, E.A.; Shakbatyan, R.; Evan, J.; Rossetti, P.; Graham, C.; Sharma, H.; Lin, C.-F., Lebo, M.S.

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