RT Journal Article
SR Electronic
T1 Enabling Precision Medicine via standard communication of NGS provenance, analysis, and results
JF bioRxiv
FD Cold Spring Harbor Laboratory
SP 191783
DO 10.1101/191783
A1 Gil Alterovits
A1 Dennis Dean
A1 Carole Goble
A1 Michael R. Crusoe
A1 Stian Soiland-Reyes
A1 Amanda Bell
A1 Anais Hayes
A1 Charles Hadley King
A1 Elaine Johanson
A1 Elaine E. Thompson
A1 Eric Donaldson
A1 Hsinyi S. Tsang
A1 Jeremy Goecks
A1 Jonas S. Almeida
A1 Lydia Guo
A1 Mark Walderhaug
A1 Paul Walsh
A1 Robel Kahsay
A1 Toby Bloom
A1 Yuching Lai
A1 Vahan Simonyan
A1 Raja Mazumder
YR 2017
UL http://biorxiv.org/content/early/2017/09/22/191783.abstract
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.