A machine-learning approach for accurate detection of copy-number variants from exome sequencing
Vijay Kumar Pounraja, Gopal Jayakar, Matthew Jensen, Neil Kelkar, Santhosh Girirajan
CN-Learn improves CNV detection from exome sequencing by integrating multiple callers and machine learning, achieving higher precision and recall than individual methods or Venn diagram approaches.
Genome Research · Jul 1, 2019Peer-reviewedGenomics