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

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...

Source: BMC Medical Genomics - August 2, 2019 Category: Genetics & Stem Cells Authors: Dimitrios Kleftogiannis, Marco Punta, Anuradha Jayaram, Shahneen Sandhu, Stephen Q. Wong, Delila Gasi Tandefelt, Vincenza Conteduca, Daniel Wetterskog, Gerhardt Attard and Stefano Lise Tags: Technical advance Source Type: research