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Updated: Aug 25, 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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Scalable detection of technically challenging variants through modified next-generation sequencing

Susan Rojahn1, Tina Hambuch1, Jessika Adrian1

  • 1Invitae, San Francisco, California, USA.

Molecular Genetics & Genomic Medicine
|October 17, 2022
PubMed
Abstract

Keywords:
bioinformaticsgenetic testingmolecular geneticsnext-generation sequencing

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