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- Add * to end of "Include pathogenic and likely pathogenic variants and variants with conflicting interpretations of pathogenicity" and add text beneath clinvar options but above submit button that …
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When a user filters on any of the following pages:
* My [Affiliation's] Variant Interpretations
* My [Affiliation's] Gene-Disease Records
* All Gene-Disease Records
* All Variant Interpretat…
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Please can we have a variant interpretation form for all CNVs?
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The [Variant Annotation Types/Categories section](https://docs.google.com/document/d/1csUrC4kX6G1V1GIz07btQQ3oL_cdDPJShuauL_uCjEw/edit#heading=h.fo3u8tl041ts) has the following definition that I'd l…
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it would be convenient if there was a gene column (as an attribute of the variant) added to the variant tables. it would help with interpretation. @ccondit, this will require additional fields in th…
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Base Modelica does not have the protected keyword, hence Base Modelica functions should not have a protected section for the declaration of local (non-input, non-output) variables.
Consider the fol…
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We need to review what https://nf-co.re/sarek can do to determine:
- if it could be used as is
- if it could be used with modifications
- if we'd rather extract and replicate some functionality h…
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Phenopackets v1 has four top-level elements: Phenopacket, Family, Cohort and Interpretation. But the `-e | --element` flag in the v1->v2 converter only accepts the first three as options. It's unclear…
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As an example, (I hope that this Scout-link will persist): https://scout-stage.scilifelab.se/cust087/F0049453/sv/variants/8e2113f40646b16473f9a12af4e57e0b
This is one of the variants that we're loo…
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Right now it seems that the OWL converter doesn't do anything with the 'local_names' construct. e.g. something like this from biolink
variant to entity association mixin:
local_names:
ga4g…