Literature Review

About This Page

Overview of the literature corpus underlying this analysis. Papers were retrieved from PubMed using gene-specific queries combined with ASD-related terms. Each publication was processed using AI to extract structured phenotype information following a standardized 56-trait schema.

Total Papers
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Analyzed publications
Year Range
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Publication span
Peak Year
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Most publications
Recent Papers
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Last 3 years
Publication Timeline
Papers, genes, and phenotypes extracted by year
What you're seeing: A bar chart showing the number of papers, genes studied, and phenotype extractions by publication year. Different colored bars represent different metrics.
What it means: Publication frequency has increased over time as ASD genetic research has grown. Years with more papers contribute more phenotype data to the analysis.
Cumulative Knowledge Growth
Total papers and unique genes over time
What you're seeing: An area chart showing the cumulative growth of papers and unique genes studied over time.
What it means: The accelerating curve reflects the rapid expansion of ASD genetics research, particularly after 2010 when sequencing technologies became more accessible.

About the Literature Corpus

This dataset comprises peer-reviewed publications from PubMed that report phenotypic information for individuals with autism spectrum disorder (ASD) and known genetic variants in SFARI-curated genes.

Extraction Process: Each paper was analyzed using Claude AI to extract structured phenotype information, including presence/absence of specific traits, confidence scores, and supporting evidence.

Quality Control: Extractions were validated using a multi-model approach, with consensus scoring and manual review for edge cases.