Nicole Ruiz will be presenting a poster: hgvs-eval: automated evaluation suite to assess HGVS-formatting tools at the biocuration conference at the end of the month. This work is part of a GA4GH initiative. We are grateful to have received a travel fellowship from the conference organizers.
The ClinGen clinical domain working group for inborn errors of metabolism will also be presenting: Creation and Implementation of Variant Curation Workflow for the ClinGen Inborn Errors in Metabolism Working Group: Phenylalanine Hydroxylase Deficiency