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Article

Concordance of Whole-Genome Long-Read Sequencing with Standard Clinical Testing for Prader-Willi and Angelman Syndromes.

The Journal of molecular diagnostics : JMD - 1 Mar 2025

Paschal Cate R, Zalusky Miranda P G, Beck Anita E, Gillentine Madelyn A, Narayanan Jaya, Damaraju Nikhita, Goffena Joy, Storz Sophie H R, Miller Danny E

Abstract excerpt

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

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Share to Angelman Syndrome
Share to Chromosomes, Human, Pair 15

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Share to DNA Copy Number Variations

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Source

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Identifiers

PMID: 39756651
DOI: 10.1016/j.jmoldx.2024.12.003
PMCID: PMC11881775

Genes

UBE3A

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026.

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