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

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

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...

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Bibliographic Details
Main Authors: Dimitrios Kleftogiannis, Marco Punta, Anuradha Jayaram, Shahneen Sandhu, Stephen Q. Wong, Delila Gasi Tandefelt, Vincenza Conteduca, Daniel Wetterskog, Gerhardt Attard, Stefano Lise
Format: Article
Language:English
Published: BMC 2019-08-01
Series:BMC Medical Genomics
Subjects:
Next generation sequencing (NGS)
Cancer genomics
Variant calling
Deep sequencing
Targeted sequencing
Ion torrent
Online Access:http://link.springer.com/article/10.1186/s12920-019-0557-9

Internet

http://link.springer.com/article/10.1186/s12920-019-0557-9

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