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Chunk #9 — Materials and methods — Literature analysis

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Rare structural variants found in attention-deficit hyperactivity disorder are preferentially associated with neurodevelopmental genes.
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Literature analysis used the set of 175 non-olfactory receptor genes overlapping CNVs unique to ADHD probands relative to controls. Literature records associated with these genes were assessed by an expert reviewer to determine whether genes had been previously suggested as candidate genes in neuropsychiatric or neural functioning disorders. Accepted evidence was restricted to significant or suggestive findings in genetic association or structural variation studies performed either as gene-specific surveys or genome-wide. To confirm the literature review process, we determined whether biomedical literature mentioning the ADHD CNV gene set preferentially referred to other neuropsychiatric disorders. As the ADHD gene set was acquired using an independent genetic technique that had no memory of prior studies, a null hypothesis would predict that MEDLINE abstracts mentioning the 175 ADHD genes would not be enriched for terms related to autism or schizophrenia, the two disorders comorbid with ADHD with sufficient literature sampling sizes. For this process, sets of genes co-mentioned with terms related to autism or schizophrenia in MEDLINE abstracts and abstract metadata were identified, using the literature mining tool FABLE (http://fable.chop.edu), the Phenopedia tool