PMC:6037202 / 14695-15601 JSONTXT

{"target":"https://pubannotation.org/docs/sourcedb/PMC/sourceid/6037202","sourcedb":"PMC","sourceid":"6037202","source_url":"https://www.ncbi.nlm.nih.gov/pmc/6037202","text":"We used the Integrated Genomics Viewer (IGV)24 to review variants that had passed filters to check for issues such as adjacent variants affecting the predicted consequence or variants being located at the end of sequencing reads. Pathogenicity was then assessed according to the American College of Medical Genetics (ACMG) criteria (Table S4),25 which provide a framework for compiling multiple weighted lines of evidence. Additionally, for each variant, it was noted whether the corresponding individual had previously been diagnosed with a tumor typically associated with pathogenic variants in that gene (according to Rahman,1 the Familial Cancer Database,23 or the original paper reporting the gene as a CPG). Validation of P/LP variants was carried out with data from the TCP or Sanger sequencing according to standard protocols if TCP data were unavailable. Primer sequences are available on request.","tracks":[{"project":"2_test","denotations":[{"id":"29909963-21221095-2051612","span":{"begin":44,"end":46},"obj":"21221095"},{"id":"29909963-25741868-2051613","span":{"begin":343,"end":345},"obj":"25741868"},{"id":"29909963-24429628-2051614","span":{"begin":628,"end":629},"obj":"24429628"}],"attributes":[{"subj":"29909963-21221095-2051612","pred":"source","obj":"2_test"},{"subj":"29909963-25741868-2051613","pred":"source","obj":"2_test"},{"subj":"29909963-24429628-2051614","pred":"source","obj":"2_test"}]}],"config":{"attribute types":[{"pred":"source","value type":"selection","values":[{"id":"2_test","color":"#c2ec93","default":true}]}]}}