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Bioinformatics Workflow for Clinical Whole Genome Sequencing at Partners HealthCare Personalized Medicine
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....
Autores principales: | , , , , , , , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
MDPI
2016
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4810391/ https://www.ncbi.nlm.nih.gov/pubmed/26927186 http://dx.doi.org/10.3390/jpm6010012 |
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author | Tsai, Ellen A. Shakbatyan, Rimma Evans, Jason Rossetti, Peter Graham, Chet Sharma, Himanshu Lin, Chiao-Feng Lebo, Matthew S. |
author_facet | Tsai, Ellen A. Shakbatyan, Rimma Evans, Jason Rossetti, Peter Graham, Chet Sharma, Himanshu Lin, Chiao-Feng Lebo, Matthew S. |
author_sort | Tsai, Ellen A. |
collection | PubMed |
description | 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. |
format | Online Article Text |
id | pubmed-4810391 |
institution | National Center for Biotechnology Information |
language | English |
publishDate | 2016 |
publisher | MDPI |
record_format | MEDLINE/PubMed |
spelling | pubmed-48103912016-04-04 Bioinformatics Workflow for Clinical Whole Genome Sequencing at Partners HealthCare Personalized Medicine Tsai, Ellen A. Shakbatyan, Rimma Evans, Jason Rossetti, Peter Graham, Chet Sharma, Himanshu Lin, Chiao-Feng Lebo, Matthew S. J Pers Med Article 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. MDPI 2016-02-27 /pmc/articles/PMC4810391/ /pubmed/26927186 http://dx.doi.org/10.3390/jpm6010012 Text en © 2016 by the authors; licensee MDPI, Basel, Switzerland. This article is an open access article distributed under the terms and conditions of the Creative Commons by Attribution (CC-BY) license (http://creativecommons.org/licenses/by/4.0/). |
spellingShingle | Article Tsai, Ellen A. Shakbatyan, Rimma Evans, Jason Rossetti, Peter Graham, Chet Sharma, Himanshu Lin, Chiao-Feng Lebo, Matthew S. Bioinformatics Workflow for Clinical Whole Genome Sequencing at Partners HealthCare Personalized Medicine |
title | Bioinformatics Workflow for Clinical Whole Genome Sequencing at Partners HealthCare Personalized Medicine |
title_full | Bioinformatics Workflow for Clinical Whole Genome Sequencing at Partners HealthCare Personalized Medicine |
title_fullStr | Bioinformatics Workflow for Clinical Whole Genome Sequencing at Partners HealthCare Personalized Medicine |
title_full_unstemmed | Bioinformatics Workflow for Clinical Whole Genome Sequencing at Partners HealthCare Personalized Medicine |
title_short | Bioinformatics Workflow for Clinical Whole Genome Sequencing at Partners HealthCare Personalized Medicine |
title_sort | bioinformatics workflow for clinical whole genome sequencing at partners healthcare personalized medicine |
topic | Article |
url | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4810391/ https://www.ncbi.nlm.nih.gov/pubmed/26927186 http://dx.doi.org/10.3390/jpm6010012 |
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