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MSIsensor: microsatellite instability detection using paired tumor-normal sequence data

25 Dec 2013

Abstract excerpt

MOTIVATION: Microsatellite instability (MSI) is an important indicator of larger genome instability and has been linked to many genetic diseases, including Lynch syndrome. MSI status is also an independent prognostic factor for favorable survival in multiple cancer types, such as colorectal and endometrial. It also informs the choice of chemotherapeutic agents. However, the current PCR-electrophoresis-based...

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PMID: 24371154
DOI: 10.1093/bioinformatics/btt755

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