{
    "bcoid": "GLY_000739",
    "title": "Human Germline Mutation Citations",
    "description": "The Human Germline Mutation Citations dataset contains details of the publications present in the Human ...",
    "filename_list": "human_protein_citations_mutation_germline.csv",
    "filename": "human_protein_citations_mutation_germline.csv",
    "filetype": "csv",
    "categories": {
        "species": [
            "Homo sapiens"
        ],
        "molecule": [
            "Protein"
        ],
        "tag": [
            "Human Germline Mutation Citations"
        ],
        "file_type": [
            "csv"
        ],
        "status": [
            "Reviewed"
        ],
        "scope": [
            "internal"
        ],
        "file_category": [
            "citations"
        ]
    },
    "minitable": {
        "content": [
            [
                "O15146-1...",
                "Identificati..."
            ],
            [
                "P07949-1...",
                "Point mutati..."
            ]
        ],
        "headers": [
            "uniprotkb_ca...",
            "title..."
        ],
        "colwidth": [
            "40%",
            "20%"
        ]
    },
    "sampledata": {
        "type": "table",
        "data": [
            [
                {
                    "type": "string",
                    "label": "uniprotkb_canonical_ac"
                },
                {
                    "type": "string",
                    "label": "title"
                },
                {
                    "type": "string",
                    "label": "journal_name"
                },
                {
                    "type": "string",
                    "label": "publication_date"
                },
                {
                    "type": "string",
                    "label": "authors"
                },
                {
                    "type": "string",
                    "label": "xref_key"
                },
                {
                    "type": "string",
                    "label": "xref_id"
                },
                {
                    "type": "string",
                    "label": "src_xref_key"
                },
                {
                    "type": "string",
                    "label": "src_xref_id"
                }
            ],
            [
                "O15146-1",
                "Identification of a Dutch founder mutation in MUSK causing fetal akinesia deformation sequence.",
                "European journal of human genetics : EJHG",
                "2015 Sep",
                "Tan-Sindhunata MB, Mathijssen IB, Smit M, Baas F, de Vries JI, van der Voorn JP, Kluijt I, Hagen MA, Blom EW, Sistermans E, Meijers-Heijboer H, Waisfisz Q, Weiss MM, Groffen AJ",
                "protein_xref_pubmed",
                "25537362",
                "protein_xref_dbsnp",
                "rs751889864"
            ],
            [
                "P07949-1",
                "Point mutations affecting the tyrosine kinase domain of the RET proto-oncogene in Hirschsprung's disease.",
                "Nature",
                "1994 Jan 27",
                "Romeo G, Ronchetto P, Luo Y, Barone V, Seri M, Ceccherini I, Pasini B, Bocciardi R, Lerone M, Kaariainen H, et al.",
                "protein_xref_pubmed",
                "8114938",
                "protein_xref_dbsnp",
                "rs75075748"
            ]
        ]
    },
    "readme": "Name\n   - Human Germline Mutation Citations\n\nVersion\n   - v-2.12.1\n\nCreated on\n  - 2023-03-14T20:20:32.882Z\n\nModified on\n   - 2024-05-17T11:24:11.342Z\n\nCreated by\n   - Jeet Vora [jeetvora@gwu.edu], Karina Martinez [karinamartinez@gwu.edu], Robel Kahsay [rykahsay@gwu.edu], Luke Johnson [luke.johnson@email.gwu.edu], Urnisha Bhuiyan [sbhuiyan28@email.gwu.edu], Cyrus Au-Yeung [cyruschauyeung@gwu.edu], Kate Warner [k.warner1@gwu.edu]\n\nAuthors\n   - \n\nChecksum\n   - \n\nUsability Domain\n   - The Human Germline Mutation Citations dataset contains details of the publications present in the Human Germline Mutation dataset (https://data.glygen.org/GLY_000459).\n\nDescription Domain\n   Keywords\n   - Publications\n   - Citations\n   - PubMed\n   - germline mutations\n   - single-nucleotide variations (nsSNVs)\n   - dbSNP\n   - ClinVar\n   - disease\n\n   Pipeline Steps\n   - Step-1: The script extracts the PMID from the dataset and uses the Entrez API to retrieve the publication details and extracts in a csv dataset.\n\nExecution Domain\n   Scripts   - https://github.com/glygener/glygen-backend-integration/blob/master/dataset-maker/make-protein-dataset.py\n\n\n   Software Prerequisites\n      Name: Python\n      Version: 2.7.5\n      URI: https://www.python.org/download/releases/2.7.5/\n\nI/O Domain\n   Input Subdomain\n      Name: human_protein_mutation_germline.csv\n      URI: https:/data.glygen.org/ln2releases/data/v-2.12.1/reviewed/human_protein_mutation_germline.csv\n   Output Subdomain\n      Name: human_protein_citations_mutation_germline.csv\n      URI: https:/data.glygen.org/ln2releases/data/v-2.12.1/reviewed/human_protein_citations_mutation_germline.csv\n      Name: human_protein_citations_mutation_germline.stat.csv\n      URI: https:/data.glygen.org/ln2releases/data/v-2.12.1/reviewed/human_protein_citations_mutation_germline.stat.csv\n\nFields\n      Name: \"uniprotkb_canonical_ac\"\"\n     Description: \"\"\n      Unique Values: \"513\"",
    "downloadurl": "/ln2data/releases/data/v-2.12.1/reviewed/human_protein_citations_mutation_germline.csv"
}