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broadinstitute / seqr-loading-pipelines

hail-based pipelines for annotating variant callsets and exporting them to elasticsearch
MIT License
22 stars 20 forks source link

Fix missing hgmd variants #747

Closed bpblanken closed 5 months ago

bpblanken commented 5 months ago

Bug was a missing contig recoding... which got dropped at the beginning of the re-write.