PT  - JOURNAL ARTICLE
AU  - Gil Alterovitz
AU  - Dennis Dean
AU  - Carole Goble
AU  - Michael R. Crusoe
AU  - Stian Soiland-Reyes
AU  - Amanda Bell
AU  - Anais Hayes
AU  - Anita Suresh
AU  - Charles H. King
AU  - Dan Taylor
AU  - KanakaDurga Addepalli
AU  - Elaine Johanson
AU  - Elaine E. Thompson
AU  - Eric Donaldson
AU  - Hiroki Morizono
AU  - Hsinyi Tsang
AU  - Jeet K. Vora
AU  - Jeremy Goecks
AU  - Jianchao Yao
AU  - Jonas S. Almeida
AU  - Konstantinos Krampis
AU  - Krista M. Smith
AU  - Lydia Guo
AU  - Mark Walderhaug
AU  - Marco Schito
AU  - Matthew Ezewudo
AU  - Nuria Guimera
AU  - Paul Walsh
AU  - Robel Kahsay
AU  - Srikanth Gottipati
AU  - Timothy C Rodwell
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  - 2018 Jan 01
TA  - bioRxiv
PG  - 191783
4099  - http://biorxiv.org/content/early/2018/04/03/191783.short
4100  - http://biorxiv.org/content/early/2018/04/03/191783.full
AB  - Precision medicine can be empowered by a personalized approach to patient care based on the patient’s or pathogen’s unique genomic sequence. For precision medicine, genomic findings must be robust and reproducible, and experimental data capture should adhere to FAIR guiding principles. Moreover, precision medicine requires standardized reporting that extends beyond wet lab procedures to computational methods. Rapidly developing standardization technologies can improve communication and reporting of genomic sequence data analysis steps by utilizing concepts defined in the BioCompute framework, such as error domain, usability domain, verification kit, and provenance domain. These advancements allow data provenance to be standardized and promote interoperability. Thus, a resulting bioinformatics computation instance that includes these advancements can be easily communicated, repeated and compared by scientists, regulators, test developers and clinicians. Easing the burden of doing the aforementioned tasks greatly extends the 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. The BioCompute paradigm and the resulting BioCompute Objects (BCOs) offer that umbrella. Through standardized bundling of high-throughput sequencing studies under BCOs, regulatory agencies (e.g., FDA), test developers, researchers, and clinicians can expand collaboration to drive innovation in precision medicine, with the potential for decreasing the time and cost associated with next generation sequencing workflow exchange, reporting, and regulatory reviews.