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Detecting somatic point mutations in cancer genome sequencing data: a comparison of mutation callers.

Genome medicine | 2013

Driven by high throughput next generation sequencing technologies and the pressing need to decipher cancer genomes, computational approaches for detecting somatic single nucleotide variants (sSNVs) have undergone dramatic improvements during the past 2 years. The recently developed tools typically compare a tumor sample directly with a matched normal sample at each variant locus in order to increase the accuracy of sSNV calling. These programs also address the detection of sSNVs at low allele frequencies, allowing for the study of tumor heterogeneity, cancer subclones, and mutation evolution in cancer development.

Pubmed ID: 24112718 RIS Download

Research resources used in this publication

None found

Antibodies used in this publication

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Associated grants

  • Agency: NCI NIH HHS, United States
    Id: R01 CA121210
  • Agency: NLM NIH HHS, United States
    Id: R01 LM011177

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This is a list of tools and resources that we have found mentioned in this publication.


Genome Institue at Washington University (tool)

RRID:SCR_010259

THIS RESOURCE IS NO LONGER IN SERVICE. Documented on March 17, 2022. Genome databases housed at the Genome Institute at Washington University. Included are genome databases from Humans/Primates, other vertebrates, microorganisms, plants and invertebrates.

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Picard (tool)

RRID:SCR_006525

Java toolset for working with next generation sequencing data in the BAM format.

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HCC827 (tool)

RRID:CVCL_2063

Cell line HCC827 is a Cancer cell line with a species of origin Homo sapiens (Human)

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