Article

Flexible and rapid validation of structural variation using adaptive sampling

2025-09-11

Abstract excerpt

<title>Abstract</title> <p>Identification of genomic rearrangement by microarrays or short-read sequencing frequently lacks information about the exact architecture and breakpoints of variants due to technical limitations. Independent verification of complex structural variants (SVs) is often performed using custom targeted assays, making confirmation of clinically relevant findings time consuming and laborious....

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Literature Corpus work: 62b3130f-11d5-55d4-9339-6ccd7bd44e0f
DOI: 10.21203/rs.3.rs-7307341/v1

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