Genomic NGS Tool
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NGS Genomics Import Tool

The characterization of a patient, whether for clinical care or clinical research, is destined to become heavily dependent upon knowing an individual's full genome.  The development of next generation sequencing (NGS) has allowed the whole genome to be readily expressed.  This tool enables an i2b2 data loading process that transforms and organizes the products of NGS pipelines into genomic variant observations expressed in the Sequence Ontology.  These observations can then co-exist with many other clinical observations about a patient and allow the formation of complex translational queries.

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