a de novo variant calling algorithm that uses information from sequence data in the pedigree and unrelated samples.
Biology, Genetics, DNA polymorphism
Mohanty AK, Vuzman D, Francioli L, Cassa C, Brigham Genomic Medicine, Undiagnosed Diseases Network, Brigham and Women’s Hospital FaceBase Project, Toth-Petroczy A, Sunyaev S "novoCaller: a Bayesian network approach for de novo variant calling from pedigree and population sequence data." Bioinformatics 2019; 35(7):1174-1180 https://doi.org/10.1093/bioinformatics/bty749
PMID: 30169785
PMCID: PMC6449753
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