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Article

Identification of single nucleotide variants using position-specific error estimation in deep sequencing data.

BMC medical genomics - 2 Aug 2019

Kleftogiannis Dimitrios, Punta Marco, Jayaram Anuradha, Sandhu Shahneen, Wong Stephen Q, Gasi Tandefelt Delila, Conteduca Vincenza, Wetterskog Daniel, Attard Gerhardt, Lise Stefano

Abstract excerpt

BACKGROUND: Targeted deep sequencing is a highly effective technology to identify known and novel single nucleotide variants (SNVs) with many applications in translational medicine, disease monitoring and cancer profiling. However, identification of SNVs using deep sequencing data is a challenging computational problem as different sequencing artifacts limit the analytical sensitivity of SNV detection, especially...

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PMID: 31375105
DOI: 10.1186/s12920-019-0557-9
PMCID: PMC6679440

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