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Genomics informatics — Clinical genomics data sharing specification for next-generation sequencing
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.
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