Article

Detecting cryptic clinically-relevant structural variation in exome sequencing data increases diagnostic yield for developmental disorders

2020-10-02

Abstract excerpt

<h4>Summary</h4> Structural Variation (SV) describes a broad class of genetic variation greater than 50bps in size. SVs can cause a wide range of genetic diseases and are prevalent in rare developmental disorders (DD). Patients presenting with DD are often referred for diagnostic testing with chromosomal microarrays (CMA) to identify large copy-number variants (CNVs) and/or with single gene, gene-panel, or exome s...

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Literature Corpus work: dfadd499-5c8f-51c7-aa42-dfd2295d573c
DOI: 10.1101/2020.10.02.20194241

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