Your browser doesn't support javascript.
loading
Applying FHIR Genomics for Research - From Sequencing to Database.
Hernandez, Sean; Fairchild, Karen; Pemberton, Mark; Dahmer, Jonathan; Zhang, Wei; Palchuk, Matvey B; Topaloglu, Umit.
Afiliação
  • Hernandez S; Wake Forest School of Medicine, Winston-Salem, NC.
  • Fairchild K; TriNetX, LLC, Cambridge, MA.
  • Pemberton M; HL7 Clinical Genomics Working Group, Ann Arbor, MI.
  • Dahmer J; Information Technology Services, Atrium Health Wake Forest Baptist, Winston-Salem, NC.
  • Zhang W; TriNetX, LLC, Cambridge, MA.
  • Palchuk MB; Wake Forest School of Medicine, Winston-Salem, NC.
  • Topaloglu U; TriNetX, LLC, Cambridge, MA.
AMIA Jt Summits Transl Sci Proc ; 2022: 236-243, 2022.
Article em En | MEDLINE | ID: mdl-35854733
The availability of next-generation sequencing (NGS) technologies and their continually declining costs have resulted in the accumulation of large genomic data sets. NGS results have traditionally been delivered in PDF format, and in some cases, structured data, e.g., XML or JSON formats, are also made available, but there is a lack of uniformity around the profiling of external vendor testing platforms. Atrium Health Wake Forest Baptist and TriNetX have harmonized and mapped genomic data to FHIR Genomic standards and imported it into the TriNetX database through a data pipeline. This process is translatable to other sequencing platforms and to other institutions. The addition of genotypic data to the TriNetX database to the reservoir of phenotypic data will promote enhanced industry trial recruitment, (ii) comprehensive intra-institutional genomic benchmarking/quality improvement, and eventually (iii) sweeping inter-institutional genomic research and treatment paradigm shifts.

Texto completo: 1 Base de dados: MEDLINE Idioma: En Ano de publicação: 2022 Tipo de documento: Article

Texto completo: 1 Base de dados: MEDLINE Idioma: En Ano de publicação: 2022 Tipo de documento: Article