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

被引：12

作者：

Tsai, Ellen A. ^{[1
,2
,3
]}

Shakbatyan, Rimma ^{[1
]}

Evans, Jason ^{[1
]}

Rossetti, Peter ^{[1
]}

Graham, Chet ^{[1
]}

Sharma, Himanshu ^{[1
]}

Lin, Chiao-Feng ^{[1
,2
,3
]}

Lebo, Matthew S. ^{[1
,4
,5
]}

机构：

[1] Partners HealthCare, Personalized Med, Cambridge, MA 02139 USA

[2] Brigham & Womens Hosp, Channing Div Network Med, 75 Francis St, Boston, MA 02115 USA

[3] Harvard Med Sch, Dept Med, Boston, MA 02138 USA

[4] Harvard Med Sch, Dept Pathol, Boston, MA 02138 USA

[5] Brigham & Womens Hosp, Dept Pathol, 75 Francis St, Boston, MA 02115 USA

来源：

JOURNAL OF PERSONALIZED MEDICINE | 2016年 / 6卷 / 01期

基金：

美国国家卫生研究院;

关键词：

clinical sequencing; WGS; NGS; next generation sequencing; bioinformatics; validation; precision medicine;

D O I：

10.3390/jpm6010012

中图分类号：

R19 [保健组织与事业（卫生事业管理）];

学科分类号：

摘要：

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.

引用

页数：10

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