Enabling Precision Medicine via standard communication of NGS provenance, analysis, and results

Research output: Working paper

  • External authors:
  • Gil Alterovitz
  • Dennis A Dean
  • Carole Goble
  • Michael R Crusoe
  • Amanda Bell
  • Anais Hayes
  • Anita Suresh
  • Anjan Purkayastha
  • Charles Hadley S King
  • Elaine Johanson
  • Elaine E Thompson
  • Eric Donaldson
  • Hsinyi S Tsang
  • Jeremy Goecks
  • Jonas S Almeida
  • Lydia Guo
  • Mark Walderhaug
  • Paul Walsh
  • Robel Kahsay
  • Toby Bloom
  • Yuching Lai
  • Vahan Simonyan
  • Raja Mazumder


Precision medicine can be empowered by a personalized approach to patient care based on the patient's unique genomic sequence. To be used in precision medicine, genomic findings must be robust, reproducible, and experimental data capture should adhere to FAIR Data Guiding Principles. Moreover, precision medicine requires standardization that extends beyond wet lab procedures to computational methods. Rapidly developing technologies improves bioinformatics communication in genomic sequencing by introducing concepts such as error domain, usability domain, validation kit, and provenance information. These advancements allow data provenance to be standardized and ensure interoperability. Thus, a resulting bioinformatics computation instance that includes these advancements can be easily communicated to and repeated and compared by scientists, regulators, clinicians and others, allowing a greater range of practical application. Advancing clinical trials, precision medicine, and regulatory submissions requires an umbrella of standards that not only fuses these elements, but also ensures efficient communication and documentation of genomic analyses. Through standardized bundling of HTS studies under an umbrella, regulatory agencies (FDA), academic researchers, and clinicians can expand collaboration to drive innovation in precision medicine with the potential for decreasing the time and cost associated with NGS workflow exchange, including FDA regulatory review submissions.

Bibliographical metadata

Original languageEnglish
Number of pages18
StatePublished - 22 Sep 2017

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