Identification of single nucleotide variants using position-specific error estimation in deep sequencing data
Dimitrios Kleftogiannis, Marco Punta, Anuradha Jayaram, Shahneen Kaur Sandhu, Stephen Q. Wong, Delila Gasi Tandefelt, Vincenza Conteduca, Daniel Wetterskog, Gerhardt Attard, Stefano Lise
AmpliSolve improves SNV detection in deep sequencing data by estimating position-specific background noise, achieving good precision and sensitivity even at low VAFs.
BMC Medical Genomics · Aug 2, 2019Peer-reviewedGenomics