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Article

Application of multiple mosaic callers improves post-zygotic mutation detection from exome sequencing data.

Genetics in medicine : official journal of the American College of Medical Genetics - 1 Oct 2024

Sandran Nandini G, Fornarino Dani L, Corbett Mark A, Kroes Thessa, Gardner Alison E, MacLennan Alastair H, Gécz Jozef, van Eyk Clare L

Abstract excerpt

PURPOSE: The gold standard for identification of post-zygotic variants (PZVs) is droplet digital polymerase chain reaction or high-depth sequencing across multiple tissues types. These approaches are yet to be systematically implemented for monogenic disorders. We developed PZV detection pipelines for correct classification of de novo variants. METHOD: Our pipelines detect PZV in parents (gonosomal mosaicism...

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PMID: 39041334
DOI: 10.1016/j.gim.2024.101220

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