Related Experiment Video

Updated: Jun 24, 2025

Detection of Rare Genomic Variants from Pooled Sequencing Using SPLINTER
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Detection of Rare Genomic Variants from Pooled Sequencing Using SPLINTER

Published on: June 23, 2012

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Application of long read sequencing in rare diseases: The longer, the better?

Si-Yan Yu1, Yu-Lin Xi2, Fu-Qiang Xu3

  • 1Department of Pediatric Laboratory, Affiliated Children's Hospital of Jiangnan University (Wuxi Children's Hospital), Wuxi, Jiangsu, China; The First School of Clinical Medicine, Nanjing Medical University, Nanjing, Jiangsu, China.

European Journal of Medical Genetics
|June 4, 2024
PubMed

Keywords:
Comprehensive analysisLong-read sequencingRare diseasesStructural variationsTandem repeats

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