DeepSom: a CNN-based approach to somatic variant calling in WGS samples without a matched normal
Sign Up to like & getrecommendations! Published in 2023 at "Bioinformatics"
DOI: 10.1093/bioinformatics/btac828
Abstract: Abstract Motivation Somatic mutations are usually called by analyzing the DNA sequence of a tumor sample in conjunction with a matched normal. However, a matched normal is not always available, for instance, in retrospective analysis… read more here.
Keywords: somatic variant; wgs samples; deepsom; matched normal ... See more keywords
Comparative analysis of somatic variant calling on matched FF and FFPE WGS samples
Sign Up to like & getrecommendations! Published in 2020 at "BMC Medical Genomics"
DOI: 10.1186/s12920-020-00746-5
Abstract: Background Research grade Fresh Frozen (FF) DNA material is not yet routinely collected in clinical practice. Many hospitals, however, collect and store Formalin Fixed Paraffin Embedded (FFPE) tumor samples. Consequently, the sample size of whole… read more here.
Keywords: ffpe wgs; variant calling; wgs samples; tumor ... See more keywords