Defining = "AutosomalDominantDisease"

[jimmyzhen]

{
    "AutosomalDominantDisease": {
        "ProbandWithNon-LOF": {
            "value": "0.5",
            "tally": "0.5",
            "pmid": {
                "publications": [
                    {
                        "title": "[Oxygen affinity of haemoglobin (author",
                        "author": "Robert M",
                        "pubdate": "1975 Jan-Feb",
                        "source": "Bull Physiopathol (Nancy)",
                        "uid": "111"
                    }
                ],
                "notes": {
                    "note": "Proband with "
                }
            }
        },
        "ProbandWithLOF": {
            "value": "0.5",
            "tally": "0.5",
            "pmid": {
                "publications": [
                    {
                        "title": "[Oxygen affinity of haemoglobin (author",
                        "author": "Robert M",
                        "pubdate": "1975 Jan-Feb",
                        "source": "Bull Physiopathol (Nancy)",
                        "uid": "111"
                    }
                ],
                "notes": {
                    "note": "Proband with "
                }
            }
        },
        "VariantIsDeNovo": {
            "value": "0.5",
            "tally": "0.5",
            "pmid": {
                "publications": [
                    {
                        "title": "[Oxygen affinity of haemoglobin (author",
                        "author": "Robert M",
                        "pubdate": "1975 Jan-Feb",
                        "source": "Bull Physiopathol (Nancy)",
                        "uid": "111"
                    }
                ],
                "notes": {
                    "note": "Proband with "
                }
            }
        },
        "TwoNon-LOFVariantsInTrans": {
            "value": "0.5",
            "tally": "1",
            "pmid": {
                "publications": [
                    {
                        "title": "[Oxygen affinity of haemoglobin (author",
                        "author": "Robert M",
                        "pubdate": "1975 Jan-Feb",
                        "source": "Bull Physiopathol (Nancy)",
                        "uid": "111"
                    }
                ],
                "notes": {
                    "note": "Proband with "
                }
            }
        },
        "TwoVariantsInTransAndAtLeastOneIsLOFOrDeNovo": {
            "value": "0.5"
        }
    }
}

https://github.com/clingen-data-model/data-exchange-shared-json/blob/87fa6290e08a78d16eb022a487a1c8254dd1603e/json-structure-phase1/Gene%20Curation%20Interface/gci.json#L51

@sgoehringer,

Couple of things in regards to the "AutosomalDominantDisease" object:

1. The object key appears to be dynamic depending on what the mode of inheritance is and so the GCI application will need to generate this object key accordingly. Do you have any thoughts on how this object key shall be named for the other mode of inheritance, such as AR and X-Linked?
2. According to the SOP, only 3 variant types will be included in the AD mode of inheritance. In that case, the GCI application will unlikely return the "TwoNon-LOFVariantsInTrans" and "TwoVariantsInTransAndAtLeastOneIsLOFOrDeNovo" objects at all in the collection.

[sgoehringer]

@jimmyzhen Num2 - We are only imaging the JSON to objects that you have data... everything else we assume will be null so you don't need to share it. I also thing some of the confusion is due to a legacy issue regarding the AR/X-link which I commented on in #15 (I just started on that one first) Num1 - A schema update was commented on in issue #15

Let me know if I missed anything.

[sgoehringer]

Closing - https://github.com/clingen-data-model/data-exchange-shared-json/commit/60a162853115bef5df1e0a9cbe636c92177ad3bd#diff-ed6c7b92556a87f83ad6b2d46e58fcb4