Gerstung M, Beisel C, Rechsteiner M, Wild P, Schraml P, Moch H, Beerenwinkel N (2012). “Reliable detection of subclonal single-nucleotide variants in tumor cell populations.” Nat Commun, 3, 811.

Gerstung M, Papaemmanuil E, Campbell PJ (2014). “Subclonal variant calling with multiple samples and prior knowledge.” Bioinformatics, 30, 1198-1204.

Corresponding BibTeX entries:

  @Article{GerstungNC2012,
    abstract = {According to the clonal evolution model, tumor growth
      is driven by competing subclones in somatically evolving cancer
      cell populations, which gives rise to genomically heterogeneous
      tumors. We present a comparative sequencing approach combined
      with a customized statistical algorithm for detecting and
      quantifying subclonal single-nucleotide variants in mixed
      populations. We rigorously assess this method experimentally and
      show that it is capable of detecting variants with frequencies as
      low as 1/10,000 alleles. In selected genomic loci of the TP53 and
      VHL genes isolated from matched tumor and normal samples of four
      renal cell carcinoma patients, we detect 24 variants at allele
      frequencies ranging from 0.0002 to 0.34. Our findings demonstrate
      that genomic diversity is common in renal cell carcinomas and
      provide quantitative evidence for the clonal evolution model.},
    author = {Moritz Gerstung and Christian Beisel and Markus
      Rechsteiner and Peter Wild and Peter Schraml and Holger Moch and
      Niko Beerenwinkel},
    journal = {Nat Commun},
    title = {Reliable detection of subclonal single-nucleotide variants
      in tumor cell populations},
    volume = {3},
    pages = {811},
    year = {2012},
  }

  @Article{GerstungB2014,
    author = {Moritz Gerstung and Elli Papaemmanuil and Peter J
      Campbell},
    journal = {Bioinformatics},
    title = {Subclonal variant calling with multiple samples and prior
      knowledge},
    volume = {30},
    pages = {1198-1204},
    year = {2014},
  }