This white paper describes the development, validation, and analytical performance of a newly developed copy number variant (CNV) calling module released as part of the Congenica clinical decision support platform.
The module is optimized to detect both intergenic and intragenic deletions and duplications as are commonly associated with inherited and de novo genetic disorders.
The paper demonstrates that the module is capable of detecting CNVs with sizes spanning from just a few exons up to runs of multiple contiguous genes (~100bp–2Mb) and that detection is achieved with good precision and recall.
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