talkowski-lab / gnomad-sv-pipeline

Code and custom scripts relevant to gnomAD-SV (Collins*, Brand*, et al., 2020)
https://broad.io/gnomad_sv
MIT License
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Insertion Sequence #5

Closed jjfarrell closed 4 years ago

jjfarrell commented 4 years ago

In the GnomAD SV 2.1 vcf release, the alt alleles insertions are represented as <INS>. Could the actual INS sequence be made available as part of the SV pipeline. The sequence is generated by Manta. Having that available would permit genotyping of the GnomAD insertions in our own crams.