PMC:4564992 / 25815-26939 JSONTXT

{"target":"https://pubannotation.org/docs/sourcedb/PMC/sourceid/4564992","sourcedb":"PMC","sourceid":"4564992","source_url":"https://www.ncbi.nlm.nih.gov/pmc/4564992","text":"SLI is a neurodevelopmental disorder that affects linguistic abilities when development is otherwise normal. In a recent GWAS of 297 affected children in 278 pedigrees, Nudel et al.6 found two chromosomal regions of interest: chromosome 14, with a paternally inherited parent-of-origin effect (Ip, p value = 3.74 × 10−8) and chromosome 5, with a maternally inherited parent-of-origin effect (Im, p value = 1.16 × 10−7). We applied the latest versions of PREMIM and EMIM (using SHAPEIT2 to estimate the parent-of-origin of alleles) to a slightly updated version of this SLI dataset, testing for paternally inherited parent-of-origin effects on chromosome 14 and maternally inherited parent-of-origin effects on chromosome 5. The pedigrees were subjected to quality control measures as described in Anderson et al.34 and Nudel et al,6 but note that the threshold used for exclusion on the basis of heterozygosity rates was ± 3 SD from the mean, and the Hardy-Weinberg equilibrium p value exclusion threshold used in PLINK was 10−6 (and not ± 2 SD and 0.001, respectively, as previously incorrectly specified in Nudel et al.6).","tracks":[{"project":"2_test","denotations":[{"id":"26320892-24571439-2052536","span":{"begin":181,"end":182},"obj":"24571439"},{"id":"26320892-21085122-2052537","span":{"begin":812,"end":814},"obj":"21085122"},{"id":"26320892-24571439-2052538","span":{"begin":831,"end":832},"obj":"24571439"},{"id":"26320892-24571439-2052539","span":{"begin":1121,"end":1122},"obj":"24571439"}],"attributes":[{"subj":"26320892-24571439-2052536","pred":"source","obj":"2_test"},{"subj":"26320892-21085122-2052537","pred":"source","obj":"2_test"},{"subj":"26320892-24571439-2052538","pred":"source","obj":"2_test"},{"subj":"26320892-24571439-2052539","pred":"source","obj":"2_test"}]}],"config":{"attribute types":[{"pred":"source","value type":"selection","values":[{"id":"2_test","color":"#de93ec","default":true}]}]}}