Article

Long-read genome sequencing for the diagnosis of neurodevelopmental disorders

2020-07-02

Abstract excerpt

<h4>Purpose</h4> Exome and genome sequencing have proven to be effective tools for the diagnosis of neurodevelopmental disorders (NDDs), but large fractions of NDDs cannot be attributed to currently detectable genetic variation. This is likely, at least in part, a result of the fact that many genetic variants are difficult or impossible to detect through typical short-read sequencing approaches. <h4>Methods</h4>...

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Literature Corpus work: 78dd9742-d542-5855-ab9f-f1526a879040
DOI: 10.1101/2020.07.02.185447

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