clingen-data-model / data-exchange-shared-json

JSON schema utilized to share data from the curation interfaces into the Data Exchange. CONTAINS GENE EXPRESS JSON DATA
1 stars 0 forks source link

Defining = "ProbandWithNon-LOF" #15

Closed jimmyzhen closed 7 years ago

jimmyzhen commented 7 years ago

"ProbandWithNon-LOF":

https://github.com/clingen-data-model/data-exchange-shared-json/blob/87fa6290e08a78d16eb022a487a1c8254dd1603e/json-structure-phase1/Gene%20Curation%20Interface/gci.json#L53

@sgoehringer -- would like to clarify these values -- for AD or X-linked, there are 3 choices in the table, is this one?

tnavatar commented 7 years ago

@sgoehringer --this field only affects how GCI data is displayed in the report table; I'm assuming that this just flags this as data for the AD/X-linked section, correct?

I'm not going to dig into this part of the message for the rest of the website, so this only affects the report table.

sgoehringer commented 7 years ago

@jimmyzhen I see the issue in the schema... how about something like this... Feel free to revise (Jimmy, sorry if GitHub spammed you... I was trying to get the indents right)

"AutosomalDominantDiseaseXlinkedDisorder": 
    {
        "ProbandWithOtherVariantTypeWithEvidenceOfImpact": 
        {
            "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 "
                }
            }
        },
        "ProbandWithPredictedOrProvenNullVariant": 
        {
            "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 "
                }
            }
        }
},
"AutosomalRecessiveDisease": 
    {
        "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"
        }
    }
},
jimmyzhen commented 7 years ago

@sgoehringer I think this revision makes more sense to me now. Thank you.

sgoehringer commented 7 years ago

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