ArticleJournal of personalized medicine2016
Bioinformatics Workflow for Clinical Whole Genome Sequencing at Partners HealthCare Personalized Medicine.
Article in Journal of personalized medicine, 2016. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 9 papers.
What it found
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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
The trial behind it
Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
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Who cites it
9 citing papers in PubMed.
- Multi-omics approaches in cancer research with applications in tumor subtyping, prognosis, and diagnosis.Computational and structural biotechnology journal · 2021Review
- Expansion of GGC Repeat in GIPC1 Is Associated with Oculopharyngodistal Myopathy.American journal of human genetics · 2020Article
- From cytogenetics to cytogenomics: whole-genome sequencing as a first-line test comprehensively captures the diverse spectrum of disease-causing genetic variation underlying intellectual disability.Genome medicine · 2019Article
- Analyzing and Reanalyzing the Genome: Findings from the MedSeq Project.American journal of human genetics · 2019Article
- Genomics and electronic health record systems.Human molecular genetics · 2018Review
- Next-Generation Sequencing and Mutational Analysis: Implications for Genes Encoding LINC Complex Proteins.Methods in molecular biology (Clifton, N.J.) · 2018Article
- A Comparison of Whole Genome Sequencing to Multigene Panel Testing in Hypertrophic Cardiomyopathy Patients.Circulation. Cardiovascular genetics · 2017Article
- Implementing Personalized Medicine in the Academic Health Center.Journal of personalized medicine · 2016Article
- Infrastructure for Personalized Medicine at Partners HealthCare.Journal of personalized medicine · 2016Article
Corrections and comments
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Authors and funding
8 authors.
Funding
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.
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Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.