Article

Concordance of whole-genome long-read sequencing with standard clinical testing for Prader-Willi and Angelman syndromes

2024-04-03

Abstract excerpt

Current clinical testing approaches for individuals with suspected imprinting disorders are complex, often requiring multiple tests performed in a stepwise fashion to make a precise molecular diagnosis. We investigated whether whole-genome long-read sequencing (LRS) could be used as a single data source to simultaneously evaluate copy number variants (CNVs), single nucleotide variants (SNVs), structural variants (...

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Literature Corpus work: 9d1c5b04-d6bc-540c-880a-16e37c292bc4
DOI: 10.1101/2024.04.02.24305233

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