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

• Main Authors: Dimitrios Kleftogiannis (Author), Marco Punta (Author), Anuradha Jayaram (Author), Shahneen Sandhu (Author), Stephen Q. Wong (Author), Delila Gasi Tandefelt (Author), Vincenza Conteduca (Author), Daniel Wetterskog (Author), Gerhardt Attard (Author), Stefano Lise (Author)
• Format: Book
• Published: BMC, 2019-08-01T00:00:00Z.
• Subjects: article
• Online Access: Connect to this object online.

Abstract 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 chall...