PMC:5420355 / 11945-12958 JSONTXT

{"target":"https://pubannotation.org/docs/sourcedb/PMC/sourceid/5420355","sourcedb":"PMC","sourceid":"5420355","source_url":"https://www.ncbi.nlm.nih.gov/pmc/5420355","text":"Phenotypic Analyses\nWe tested for significant difference in the diagnostic yields between different phenotypic groups using the prop.test function in R. We calculated the significance of association between an individual having macrocephaly and their mutation status (either a mutation in a PI3K/AKT pathway gene or a mutation in an epigenetic regulation gene) using a Fisher’s exact test, which we implemented with the fisher.test function in R. We calculated the significance of association between an individual having macrocephaly in the absence of increased height and their mutation status, and the significance of association between an individual having increased height in the absence of macrocephaly and their mutation status in the same way. We tested for significant difference in the proportion of individuals with mild intellectual disability for those with a mutation in a PI3K/AKT pathway OGID gene and those with a mutation in an epigenetic regulation OGID gene using the prop.test function in R.","divisions":[{"label":"title","span":{"begin":0,"end":19}}],"tracks":[]}