PMC:6864571 / 8239-9350 JSONTXT

{"project":"0_colil","denotations":[{"id":"31476917-26795593-1335","span":{"begin":1106,"end":1107},"obj":"26795593"},{"id":"31476917-29314763-1335","span":{"begin":1106,"end":1107},"obj":"29314763"},{"id":"31476917-29930392-1335","span":{"begin":1106,"end":1107},"obj":"29930392"},{"id":"31476917-31164858-1335","span":{"begin":1106,"end":1107},"obj":"31164858"}],"text":"In another study, Snoeijen-Schouwenaars and colleagues investigated the diagnostic yield of exome sequencing in 100 individuals with epilepsy and ID; they sequenced the parents when possible to facilitate efficient segregation analysis and aid variant interpretation. The authors performed a tiered analysis of the data, first evaluating a panel of epilepsy genes, ID genes, or both, depending on the primary phenotypic features of the patient. Notably, they did not perform CMA, as they note that CNVs can increasingly be predicted from MPS data. The first-tier analysis yielded 18 pathogenic variants and 10 variants of uncertain clinical significance (VUS). Further analysis of the whole exome identified 7 additional pathogenic variants and 14 VUS. Thus, the overall diagnostic yield of “panel” testing was 18% with a clear diagnosis and up to 28% if VUS are included; trio exome analysis had a yield of 25% pathogenic variants with an additional 24% VUS. These results are consistent with other studies using exome sequencing to evaluate individuals with epilepsy and other neurodevelopmental features.9–12"}

{"project":"TEST0","denotations":[{"id":"31476917-147-152-1335","span":{"begin":1106,"end":1107},"obj":"[\"31164858\", \"29930392\", \"29314763\", \"26795593\"]"}],"text":"In another study, Snoeijen-Schouwenaars and colleagues investigated the diagnostic yield of exome sequencing in 100 individuals with epilepsy and ID; they sequenced the parents when possible to facilitate efficient segregation analysis and aid variant interpretation. The authors performed a tiered analysis of the data, first evaluating a panel of epilepsy genes, ID genes, or both, depending on the primary phenotypic features of the patient. Notably, they did not perform CMA, as they note that CNVs can increasingly be predicted from MPS data. The first-tier analysis yielded 18 pathogenic variants and 10 variants of uncertain clinical significance (VUS). Further analysis of the whole exome identified 7 additional pathogenic variants and 14 VUS. Thus, the overall diagnostic yield of “panel” testing was 18% with a clear diagnosis and up to 28% if VUS are included; trio exome analysis had a yield of 25% pathogenic variants with an additional 24% VUS. These results are consistent with other studies using exome sequencing to evaluate individuals with epilepsy and other neurodevelopmental features.9–12"}

{"project":"2_test","denotations":[{"id":"31476917-31164858-28639395","span":{"begin":1106,"end":1107},"obj":"31164858"},{"id":"31476917-29930392-28639395","span":{"begin":1106,"end":1107},"obj":"29930392"},{"id":"31476917-29314763-28639395","span":{"begin":1106,"end":1107},"obj":"29314763"},{"id":"31476917-26795593-28639395","span":{"begin":1106,"end":1107},"obj":"26795593"}],"text":"In another study, Snoeijen-Schouwenaars and colleagues investigated the diagnostic yield of exome sequencing in 100 individuals with epilepsy and ID; they sequenced the parents when possible to facilitate efficient segregation analysis and aid variant interpretation. The authors performed a tiered analysis of the data, first evaluating a panel of epilepsy genes, ID genes, or both, depending on the primary phenotypic features of the patient. Notably, they did not perform CMA, as they note that CNVs can increasingly be predicted from MPS data. The first-tier analysis yielded 18 pathogenic variants and 10 variants of uncertain clinical significance (VUS). Further analysis of the whole exome identified 7 additional pathogenic variants and 14 VUS. Thus, the overall diagnostic yield of “panel” testing was 18% with a clear diagnosis and up to 28% if VUS are included; trio exome analysis had a yield of 25% pathogenic variants with an additional 24% VUS. These results are consistent with other studies using exome sequencing to evaluate individuals with epilepsy and other neurodevelopmental features.9–12"}

{"project":"MyTest","denotations":[{"id":"31476917-31164858-28639395","span":{"begin":1106,"end":1107},"obj":"31164858"},{"id":"31476917-29930392-28639395","span":{"begin":1106,"end":1107},"obj":"29930392"},{"id":"31476917-29314763-28639395","span":{"begin":1106,"end":1107},"obj":"29314763"},{"id":"31476917-26795593-28639395","span":{"begin":1106,"end":1107},"obj":"26795593"}],"namespaces":[{"prefix":"_base","uri":"https://www.uniprot.org/uniprot/testbase"},{"prefix":"UniProtKB","uri":"https://www.uniprot.org/uniprot/"},{"prefix":"uniprot","uri":"https://www.uniprot.org/uniprotkb/"}],"text":"In another study, Snoeijen-Schouwenaars and colleagues investigated the diagnostic yield of exome sequencing in 100 individuals with epilepsy and ID; they sequenced the parents when possible to facilitate efficient segregation analysis and aid variant interpretation. The authors performed a tiered analysis of the data, first evaluating a panel of epilepsy genes, ID genes, or both, depending on the primary phenotypic features of the patient. Notably, they did not perform CMA, as they note that CNVs can increasingly be predicted from MPS data. The first-tier analysis yielded 18 pathogenic variants and 10 variants of uncertain clinical significance (VUS). Further analysis of the whole exome identified 7 additional pathogenic variants and 14 VUS. Thus, the overall diagnostic yield of “panel” testing was 18% with a clear diagnosis and up to 28% if VUS are included; trio exome analysis had a yield of 25% pathogenic variants with an additional 24% VUS. These results are consistent with other studies using exome sequencing to evaluate individuals with epilepsy and other neurodevelopmental features.9–12"}