Bioinformatics Workflow for Clinical Whole Genome Sequencing at Partners HealthCare Personalized Medicine

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Bioinformatics Workflow for Clinical Whole Genome Sequencing at Partners HealthCare Personalized Medicine

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Title: Bioinformatics Workflow for Clinical Whole Genome Sequencing at Partners HealthCare Personalized Medicine
Author: Tsai, Ellen A.; Shakbatyan, Rimma; Evans, Jason; Rossetti, Peter; Graham, Chet; Sharma, Himanshu; Lin, Chiao-Feng; Lebo, Matthew S.

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Citation: Tsai, Ellen A., Rimma Shakbatyan, Jason Evans, Peter Rossetti, Chet Graham, Himanshu Sharma, Chiao-Feng Lin, and Matthew S. Lebo. 2016. “Bioinformatics Workflow for Clinical Whole Genome Sequencing at Partners HealthCare Personalized Medicine.” Journal of Personalized Medicine 6 (1): 12. doi:10.3390/jpm6010012. http://dx.doi.org/10.3390/jpm6010012.
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Abstract: Effective implementation of precision medicine will be enhanced by a thorough understanding of each patient’s genetic composition to better treat his or her presenting symptoms or mitigate the onset of disease. This ideally includes the sequence information of a complete genome for each individual. At Partners HealthCare Personalized Medicine, we have developed a clinical process for whole genome sequencing (WGS) with application in both healthy individuals and those with disease. In this manuscript, we will describe our bioinformatics strategy to efficiently process and deliver genomic data to geneticists for clinical interpretation. We describe the handling of data from FASTQ to the final variant list for clinical review for the final report. We will also discuss our methodology for validating this workflow and the cost implications of running WGS.
Published Version: doi:10.3390/jpm6010012
Other Sources: http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4810391/pdf/
Terms of Use: This article is made available under the terms and conditions applicable to Other Posted Material, as set forth at http://nrs.harvard.edu/urn-3:HUL.InstRepos:dash.current.terms-of-use#LAA
Citable link to this page: http://nrs.harvard.edu/urn-3:HUL.InstRepos:26860028
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