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enhancementlong read supportSupport for long read sequence data, e.g. from Oxford Nanopore or PacBioSupport for long read sequence data, e.g. from Oxford Nanopore or PacBioreference filesTo do with generating the reference input filesTo do with generating the reference input files
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Currently, the Summary module takes in a tab delimited file (similar to a .bed file) as the input. For future iterations, we want to change it to a MAVIS .tab file format so that more information is included.
- Change support in summary from tab delimited file to MAVIS file format, rename DGV to "known_sv" as SVs from more databases will be added
- Add column for support for frequency of which a variant is observed
- Add unit tests for data that pulls from external and internal Nanpore databases (decide on TSV or VCF file formats to support)
- Add unique ID support to delineate which dataset a call is from
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enhancementlong read supportSupport for long read sequence data, e.g. from Oxford Nanopore or PacBioSupport for long read sequence data, e.g. from Oxford Nanopore or PacBioreference filesTo do with generating the reference input filesTo do with generating the reference input files