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Genome sequencing

Faster detection of somatic structural variants

Nature Biomedical Engineering volume 7, pages 847–848 (2023)Cite this article

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The algorithmic detection of cancer-associated variants can be accelerated by leveraging machine-learning classifiers to filter out reads matched to pan-genome k-mer sets.

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Fig. 1: Efficient detection of chromosomal rearrangements and fusion genes.

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Author information

Authors and Affiliations

  1. Tri-Institutional MD-PhD Program, Weill Cornell Medicine, New York, NY, USA

    Zi-Ning Choo

  2. New York Genome Center, New York, NY, USA

    Zi-Ning Choo & Marcin Imieliński

  3. Perlmutter Cancer Center, NYU Grossman School of Medicine, New York, NY, USA

    Marcin Imieliński

Authors
  1. Zi-Ning Choo
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  2. Marcin Imieliński
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Corresponding author

Correspondence to Marcin Imieliński.

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Competing interests

M.I. is an advisor to ImmPACT Bio.

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Choo, ZN., Imieliński, M. Faster detection of somatic structural variants. Nat. Biomed. Eng 7, 847–848 (2023). https://doi.org/10.1038/s41551-023-01039-9

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