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Clinical application of Complete Long Read genome sequencing identifies a 16kb intragenic duplication in EHMT1 in a patient with suspected Kleefstra syndrome

2024-03-29

Abstract excerpt

Long read sequencing offers benefits for the detection of structural variation in Mendelian disease. Here, we applied a new technology that generates contiguous long reads via tagmentation and sequencing by synthesis to a small cohort of patients with undiagnosed disease from the Undiagnosed Diseases Network. We first compare sequencing from the HG002 benchmark sample from Genome In A Bottle using nanopore sequenc...

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Literature Corpus work: 90a7781f-c35e-5b92-a486-4797f902f58b
DOI: 10.1101/2024.03.28.24304304

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Clinical application of Complete Long Read genome sequencing identifies a 16kb intragenic duplication in EHMT1 in a patient with suspected Kleefstra syndromeDOI 10.1101/2024.03.28.24304304Read

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