PT  - JOURNAL ARTICLE
AU  - Ryan Toma
AU  - Ben Pelle
AU  - Nathan Duval
AU  - Matthew M Parks
AU  - Vishakh Gopu
AU  - Hal Tily
AU  - Andrew Hatch
AU  - Ally Perlina
AU  - Guruduth Banavar
AU  - Momchilo Vuyisich
TI  - A clinically validated human capillary blood transcriptome test for global systems biology studies
AID  - 10.1101/2020.05.22.110080
DP  - 2020 Jan 01
TA  - bioRxiv
PG  - 2020.05.22.110080
4099  - http://biorxiv.org/content/early/2020/05/23/2020.05.22.110080.short
4100  - http://biorxiv.org/content/early/2020/05/23/2020.05.22.110080.full
AB  - Chronic diseases are the leading cause of morbidity and mortality globally. Yet, the majority of them have unknown etiologies, and genetic contribution is weak. In addition, many of the chronic diseases go through the cycles of relapse and remission, during which the genomic DNA does not change. This strongly suggests that human gene expression is the main driver of chronic disease onset and relapses. To identify the etiology of chronic diseases and develop more effective preventative measures, a comprehensive gene expression analysis of the human body is needed. Blood tissue is easy to access and contains a large number of expressed genes involved in many fundamental aspects of our physiology.We report here the development of a whole blood transcriptome clinical test that is high throughput, automated, inexpensive, and clinically validated. The test requires only 50 microliters of blood from a finger prick, enabling access by diverse populations that have been traditionally under-represented in clinical research. The transcripts in the samples are preserved at the time of collection and can be stored and/or transported at ambient temperatures for up to 28 days. The sample preservative protects integrity, while also inactivating all pathogens (bacteria, fungi, and viruses), enabling safe transportation globally. Given its unique set of usability features and clinical performance, this test should be integrated into longitudinal, population-scale, systems biology studies.Competing Interest StatementAll authors are current employees of Viome, Inc. or were employees when contributing work was performed.