Article

Evaluation of Genomic Proximity Mapping (GPM) for Detecting Genomic and Chromosomal Structural Variants in Constitutional Disorders

2025-04-25

Abstract excerpt

Genomic structural variants (SVs) are critical contributors to genetic diversity and disease, yet their detection remains challenging with conventional cytogenetic techniques, such as karyotyping, fluorescence in situ hybridization (FISH), and chromosome microarray analysis (CMA). These methods often lack the resolution and sensitivity needed for comprehensive characterization of chromosomal aberrations. To addres...

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Literature Corpus work: 932207dc-d8b1-575c-b9e3-c6c2f4b3ec15
DOI: 10.1101/2025.04.23.25326303

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