Designing an Optimal Expansion Method to Improve the Recall of a Genomic Variant Curation-Support Service
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DOI: 10.3233/shti220603
Abstract: The importance of genomic data for health is rapidly growing but accessing and gathering information about variants from different sources is hindered by highly heterogeneous representations of variants, as outlined by clinical associations (AMP/ASCO/CAP) in… read more here.
Keywords: curation support; variant curation; support service; genomic variant ... See more keywords