PT  - JOURNAL ARTICLE
AU  - Gil Alterovits
AU  - Dennis Dean
AU  - Carole Goble
AU  - Michael R. Crusoe
AU  - Stian Soiland-Reyes
AU  - Amanda Bell
AU  - Anais Hayes
AU  - Charles Hadley King
AU  - Elaine Johanson
AU  - Elaine E. Thompson
AU  - Eric Donaldson
AU  - Hsinyi S. Tsang
AU  - Jeremy Goecks
AU  - Jonas S. Almeida
AU  - Lydia Guo
AU  - Mark Walderhaug
AU  - Paul Walsh
AU  - Robel Kahsay
AU  - Toby Bloom
AU  - Yuching Lai
AU  - Vahan Simonyan
AU  - Raja Mazumder
TI  - Enabling Precision Medicine via standard communication of NGS provenance, analysis, and results
AID  - 10.1101/191783
DP  - 2017 Jan 01
TA  - bioRxiv
PG  - 191783
4099  - http://biorxiv.org/content/early/2017/09/21/191783.short
4100  - http://biorxiv.org/content/early/2017/09/21/191783.full
AB  - 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.