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Updated: Jul 26, 2025

Detection of Copy Number Alterations Using Single Cell Sequencing
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Identification of copy number variants with genome sequencing: Clinical experiences from the NYCKidSeq program

Katherine E Bonini1, Amanda Thomas-Wilson2, Priya N Marathe1

  • 1Institute for Genomic Health, Icahn School of Medicine at Mount Sinai, New York, New York, USA.

Clinical Genetics
|June 19, 2023
PubMed

Keywords:
CNVclinical genomicscopy number variationdiagnostic testingdiverse populationsgenome sequencingpediatric genomics

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