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Updated: Feb 12, 2026

Detection of Copy Number Alterations Using Single Cell Sequencing
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Detection of Copy Number Alterations Using Single Cell Sequencing

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Single, short in-del, and copy number variations detection in monogenic dyslipidemia using a next-generation

O Marmontel1,2, S Charrière2,3, T Simonet4,5

  • 1Service de Biochimie et Biologie moléculaire Grand Est, GHE, Hospices Civils de Lyon, Bron, France.

Clinical Genetics
|March 25, 2018
PubMed

Keywords:
Ion torrent PGMcopy number variationgenotype phenotype correlationmonogenic dyslipidemiatargeted next-generation sequencing

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