2381/11816670.v1
Craig P. Hersh
Craig P.
Hersh
Ian M. Adcock
Ian M.
Adcock
Juan C. Celedon
Juan C.
Celedon
Michael H. Cho
Michael H.
Cho
David C. Christiani
David C.
Christiani
Blanca E. Himes
Blanca E.
Himes
Naftali Kaminski
Naftali
Kaminski
Rasika A. Mathias
Rasika A.
Mathias
Deborah A. Meyers
Deborah A.
Meyers
John Quackenbush
John
Quackenbush
Susan Redline
Susan
Redline
Katrina A. Steiling
Katrina A.
Steiling
Holly K. Tabor
Holly K.
Tabor
Martin D. Tobin
Martin D.
Tobin
Mark M. Wurfel
Mark M.
Wurfel
Ivana V. Yang
Ivana V.
Yang
Gerard H. Koppelman
Gerard H.
Koppelman
High-Throughput Sequencing in Respiratory, Critical Care, and Sleep Medicine Research An Official American Thoracic Society Workshop Report
University of Leicester
2020
Science & Technology
Life Sciences & Biomedicine
Respiratory System
bioinformatics
functional genomics
genetic epidemiology
RNA sequencing
whole-genome sequencing
GENOME-WIDE ASSOCIATION
OBSTRUCTIVE PULMONARY-DISEASE
DIFFERENTIALLY EXPRESSED GENES
RNA-SEQ DATA
LUNG-FUNCTION
DISTRESS-SYNDROME
QUALITY-CONTROL
READ ALIGNMENT
EXOME
GENERATION
2020-03-06 15:48:01
Journal contribution
https://figshare.le.ac.uk/articles/journal_contribution/High-Throughput_Sequencing_in_Respiratory_Critical_Care_and_Sleep_Medicine_Research_An_Official_American_Thoracic_Society_Workshop_Report/11816670
High-throughput, “next-generation” sequencing methods are now being broadly applied across all fields of biomedical research, including respiratory disease, critical care, and sleep medicine. Although there are numerous review articles and best practice guidelines related to sequencing methods and data analysis, there are fewer resources summarizing issues related to study design and interpretation, especially as applied to common, complex, nonmalignant diseases. To address these gaps, a single-day workshop was held at the American Thoracic Society meeting in May 2017, led by the American Thoracic Society Section on Genetics and Genomics. The aim of this workshop was to review the design, analysis, interpretation, and functional follow-up of high-throughput sequencing studies in respiratory, critical care, and sleep medicine research. This workshop brought together experts in multiple fields, including genetic epidemiology, biobanking bioinformatics, and research ethics, along with physician-scientists with expertise in a range of relevant diseases. The workshop focused on application of DNA and RNA sequencing research in common chronic diseases and did not cover sequencing studies in lung cancer, monogenic diseases (e.g., cystic fibrosis), or microbiome sequencing. Participants reviewed and discussed study design, data analysis and presentation, interpretation, functional follow-up, and reporting of results. This report summarizes the main conclusions of the workshop, specifically addressing the application of these methods in respiratory, critical care, and sleep medicine research. This workshop report may serve as a resource for our research community as well as for journal editors and reviewers of sequencing-based manuscript submissions in our research field.