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Merge pull request #565 from ga4gh/variation_annotation
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@jeromekelleher: I agree about times -- we should go for consistency.

I can't tell whether your comment is intended to hold on this merge or not.

I created #568 to choose a consistent time format. If we can get a quick decision on that, the path becomes easy.
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reece committed Feb 29, 2016
2 parents 8bb1865 + f45529b commit bf36f08
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2 changes: 1 addition & 1 deletion doc/source/_static/variant_annotation_schema.gliffy

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2 changes: 1 addition & 1 deletion doc/source/_static/variant_annotation_schema.svg
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23 changes: 0 additions & 23 deletions doc/source/api/alleleAnnotations.rst
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Expand Up @@ -63,29 +63,6 @@ transcripts. The record includes:
* A ``HGVSAnnotation`` record containing variant descriptions at all relevant levels.
* ``AlleleLocation`` records describing the changes at cDNA, CDS and protein level.
* A set of results from prediction packages analyzing the allele impact.
* A summary impact classification reflecting the highest impact consequence.

Predicted Molecular Impact Classification
@@@@@@@@@@@@@@@@@@@@@@@@@@@@@@@@@@@@@@@@@

The predicted molecular impact is a simple prioritization based on the putative
deleteriousness of the variant allele on the transcript, which is popular with
users of annotation tools. This is usually calculated based on naive algorithms
and may not accurately predict true impact at protein level.

Predicted Molecular Impact classification is summarized using the terms:

+----------+-----------------------------------------------+-------------------------------------------+
| Impact | Meaning | Example SO terms |
+==========+===============================================+===========================================+
| HIGH | Highly likely to disrupt protein function | splice_donor_variant, stop_gained |
+----------+-----------------------------------------------+-------------------------------------------+
| MODERATE | Moderately likely to disrupt protein function | missense_variant, inframe_insertion |
+----------+-----------------------------------------------+-------------------------------------------+
| LOW | Not likely to disrupt protein function | synonymous_variant, stop_retained_variant |
+----------+-----------------------------------------------+-------------------------------------------+
| MODIFIER | No predicted effect | 3_prime_UTR_variant, intron_variant |
+----------+-----------------------------------------------+-------------------------------------------+

Search Options
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33 changes: 10 additions & 23 deletions doc/source/schemas/alleleAnnotationmethods.rst
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Expand Up @@ -365,14 +365,14 @@ Gets an `VariantAnnotationSet` by ID.
:field description:
A description of the experiment.
:type description: null|string
:field created:
:field createDateTime:
The time at which this record was created.
Format: :ref:`ISO 8601 <metadata_date_time>`
:type created: string
:field updated:
:type createDateTime: string
:field updateDateTime:
The time at which this record was last updated.
Format: :ref:`ISO 8601 <metadata_date_time>`
:type updated: string
:type updateDateTime: string
:field runTime:
The time at which this experiment was performed.
Granularity here is variable (e.g. date only).
Expand Down Expand Up @@ -443,14 +443,14 @@ Gets an `VariantAnnotationSet` by ID.
:type name: null|string
:field description:
:type description: null|string
:field created:
:field createDateTime:
The time at which this record was created.
Format: :ref:`ISO 8601 <metadata_date_time>`
:type created: null|string
:field updated:
:type createDateTime: null|string
:field updateDateTime:
The time at which this record was last updated.
Format: :ref:`ISO 8601 <metadata_date_time>`
:type updated: string
:type updateDateTime: string
:field type:
The type of analysis.
:type type: null|string
Expand Down Expand Up @@ -499,16 +499,6 @@ Gets an `VariantAnnotationSet` by ID.
non-genomic coordinate system such as a CDS or protein and holds the
reference and alternate sequence where appropriate

.. avro:enum:: Impact
:symbols: HIGH|MODERATE|LOW|MODIFIER
Impact is a simple prioritization for the effect of an allele which is used
in the annotation record.
IMPORTANT:
Prioritization methods are a crude estimates and are not assumed to be
reliable: a 'HIGH' Impact may actually not cause any disruption
in protein function or expression.

.. avro:record:: VariantAnnotationSet
:field id:
Expand Down Expand Up @@ -561,9 +551,6 @@ Gets an `VariantAnnotationSet` by ID.
:field effects:
Effect of variant on this feature
:type effects: array<OntologyTerm>
:field impact:
Highest Impact from the predicted effects
:type impact: Impact
:field hgvsAnnotation:
Human Genome Variation Society variant descriptions
:type hgvsAnnotation: HGVSAnnotation
Expand Down Expand Up @@ -593,9 +580,9 @@ Gets an `VariantAnnotationSet` by ID.
:field variantAnnotationSetId:
The ID of the variant annotation set this record belongs to.
:type variantAnnotationSetId: string
:field created:
:field createDateTime:
The :ref:`ISO 8601 <metadata_date_time>` time at which this record was created.
:type created: null|string
:type createDateTime: null|string
:field transcriptEffects:
The transcript effect annotation for the alleles of this variant. Each one
represents the effect of a single allele on a single transcript.
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16 changes: 8 additions & 8 deletions doc/source/schemas/readmethods.rst
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Expand Up @@ -200,14 +200,14 @@ Gets a `org.ga4gh.models.ReadGroup` by ID.
:field description:
A description of the experiment.
:type description: null|string
:field created:
:field createDateTime:
The time at which this record was created.
Format: :ref:`ISO 8601 <metadata_date_time>`
:type created: string
:field updated:
:type createDateTime: string
:field updateDateTime:
The time at which this record was last updated.
Format: :ref:`ISO 8601 <metadata_date_time>`
:type updated: string
:type updateDateTime: string
:field runTime:
The time at which this experiment was performed.
Granularity here is variable (e.g. date only).
Expand Down Expand Up @@ -278,14 +278,14 @@ Gets a `org.ga4gh.models.ReadGroup` by ID.
:type name: null|string
:field description:
:type description: null|string
:field created:
:field createDateTime:
The time at which this record was created.
Format: :ref:`ISO 8601 <metadata_date_time>`
:type created: null|string
:field updated:
:type createDateTime: null|string
:field updateDateTime:
The time at which this record was last updated.
Format: :ref:`ISO 8601 <metadata_date_time>`
:type updated: string
:type updateDateTime: string
:field type:
The type of analysis.
:type type: null|string
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16 changes: 8 additions & 8 deletions doc/source/schemas/reads.rst
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Expand Up @@ -143,14 +143,14 @@ See {TODO: LINK TO READS OVERVIEW} for more information.
:field description:
A description of the experiment.
:type description: null|string
:field created:
:field createDateTime:
The time at which this record was created.
Format: :ref:`ISO 8601 <metadata_date_time>`
:type created: string
:field updated:
:type createDateTime: string
:field updateDateTime:
The time at which this record was last updated.
Format: :ref:`ISO 8601 <metadata_date_time>`
:type updated: string
:type updateDateTime: string
:field runTime:
The time at which this experiment was performed.
Granularity here is variable (e.g. date only).
Expand Down Expand Up @@ -221,14 +221,14 @@ See {TODO: LINK TO READS OVERVIEW} for more information.
:type name: null|string
:field description:
:type description: null|string
:field created:
:field createDateTime:
The time at which this record was created.
Format: :ref:`ISO 8601 <metadata_date_time>`
:type created: null|string
:field updated:
:type createDateTime: null|string
:field updateDateTime:
The time at which this record was last updated.
Format: :ref:`ISO 8601 <metadata_date_time>`
:type updated: string
:type updateDateTime: string
:field type:
The type of analysis.
:type type: null|string
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