This document specifies clinical sequencing information generated by massive parallel sequencing technology for sharing health information via massively parallel sequencing. This document covers the data fields and their metadata from the generation of sequence reads and base calling to variant evaluation and assertion for archiving reproducibility during health information exchange of clinical sequence information. However, the specimen collection, processing and storage, DNA extraction and DNA processing and library preparation, and the generation of test report are not in the scope of this document.
This document hence defines the data types, relationship, optionality, cardinalities and bindings of terminology of the data.
In essence, this document specifies:
— the required data fields and their metadata from generation of sequence reads and base calling to variant evaluation and assertion for sharing clinical genomic sequencing data files generated by massively parallel sequencing technology, as shown in Figure 1;
— the sequencing information from human samples using DNA sequencing by massively parallel sequencing technologies for clinical practice.