Information in SFARI Gene Archive will no longer be updated. To view the most up to date information, visit SFARI Gene.

Human Gene

Curation

The content of the Human Gene module originates entirely from published, peer-reviewed scientific literature. Our expert researchers systematically search, collect, and extract information on human genetic studies of ASD. A comprehensive collection of these genes was initially compiled from an exhaustive search of the literature found in NCBI's PubMed database, followed by additional searches to maintain an up-to-date resource.

Every entry in the Human Gene module is curated using an exhaustive review process:

  • 1.

    All human genetic studies pertaining to a candidate gene are extracted and counted.

  • 2.

    A multi-step annotation strategy is implemented to incorporate diverse molecular information about a candidate gene for assessment of its relevance to ASD.

  • 3.

    To enhance functional knowledge of a candidate gene, the annotation model also incorporates highly cited articles on candidate genes/proteins, as well as other recently published articles that demonstrate the current level of known information about certain gene functions. This feature of the Human Gene module ensures that entries on ASD candidate genes include functional details that go beyond the basic information available in large public databases.?

  • 4.

    Finally, candidate genes are classified into distinct genetic categories based on the supporting evidence.

Our experts review the entirety of the information presented in a scientific publication, rather than solely considering the conclusions put forth by the authors. They include any relevant data that an author has provided evidence for in the report. For example, significant data that appear as supplementary information in a publication will appear in the Human Gene module annotation even if an author does not delve further into those particular data.

Growth of Database

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number of genes
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