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Updated: Sep 10, 2025

Detection of Rare Genomic Variants from Pooled Sequencing Using SPLINTER
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Published on: June 23, 2012

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TRsv: simultaneous detection of tandem repeat variations, structural variations, and short indels using long read

Shunichi Kosugi1,2,3,4, Chikashi Terao5,6,7

  • 1Center for Genome Informatics, Joint Support-Center for Data Science Research, Research Organization of Information and Systems Center for Genome Informatics, 1111, Yata, Mishima, Shizuoka, 411-8540, Japan. shunichi.kosugi@nig.ac.jp.

Genome Biology
|August 19, 2025
PubMed

Keywords:
IndelLong readSTRSVStructural variationTRTandem repeatTandem repeat expansionVNTRWGS

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