Sensitive detection of somatic point mutations in impure and heterogeneous cancer samples

@inproceedings{Cibulskis2013SensitiveDO,
  title={Sensitive detection of somatic point mutations in impure and heterogeneous cancer samples},
  author={Kristian Cibulskis and Michael S. Lawrence and Scott L. Carter and Andrey Y. Sivachenko and David B. Jaffe and Carrie L. Sougnez and Stacey Bolk Gabriel and Matthew L Meyerson and Eric S. Lander and Gad Getz},
  booktitle={Nature Biotechnology},
  year={2013}
}
Detection of somatic point substitutions is a key step in characterizing the cancer genome. However, existing methods typically miss low-allelic-fraction mutations that occur in only a subset of the sequenced cells owing to either tumor heterogeneity or contamination by normal cells. Here we present MuTect, a method that applies a Bayesian classifier to detect somatic mutations with very low allele fractions, requiring only a few supporting reads, followed by carefully tuned filters that ensure… CONTINUE READING
BETA

Similar Papers

Figures, Tables, and Topics from this paper.

Citations

Publications citing this paper.
SHOWING 1-10 OF 765 CITATIONS, ESTIMATED 60% COVERAGE

Analysis of error profiles in deep next-generation sequencing data

  • Genome Biology
  • 2019
VIEW 11 EXCERPTS
CITES METHODS
HIGHLY INFLUENCED

Cell-level somatic mutation detection from single-cell RNA-sequencing.

  • Bioinformatics
  • 2019
VIEW 9 EXCERPTS
CITES METHODS & BACKGROUND
HIGHLY INFLUENCED

Mutational load in carotid body tumor

VIEW 6 EXCERPTS
CITES METHODS
HIGHLY INFLUENCED

GENOMIC AND TRANSCRIPTOMIC LANDSCAPE OF COLORECTAL PREMALIGNANCY

VIEW 5 EXCERPTS
CITES METHODS & BACKGROUND
HIGHLY INFLUENCED

FILTER CITATIONS BY YEAR

2012
2019

CITATION STATISTICS

  • 118 Highly Influenced Citations

  • Averaged 135 Citations per year from 2017 through 2019

References

Publications referenced by this paper.
SHOWING 1-10 OF 39 REFERENCES