Article
Integration of intra-sample contextual error modeling for improved detection of somatic mutations from deep sequencing.
Science advances - 1 Dec 2020
Abelson Sagi, Zeng Andy G X, Nofech-Mozes Ido, Wang Ting Ting, Ng Stanley W K, Minden Mark D, Pugh Trevor J, Awadalla Philip, Shlush Liran I, Murphy Tracy, Chan Steven M, Dick John E, Bratman Scott V
Abstract excerpt
Sensitive mutation detection by next-generation sequencing is critical for early cancer detection, monitoring minimal/measurable residual disease (MRD), and guiding precision oncology. Nevertheless, because of artifacts introduced during library preparation and sequencing, the detection of low-frequency variants at high specificity is problematic. Here, we present Espresso, an error suppression method that...
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