Exome variant discrepancies due to reference-genome differences
Li He, Moez Dawood, Michael M. Khayat, Jesse Farek, Shalini N. Jhangiani, Ziad Khan, Tadahiro Mitani, Zeynep Coban‐Akdemir, James R. Lupski, Eric Venner, Jennifer E. Posey, Aniko Sabo, Richard A. Gibbs
Topics & Concepts
ExomeGenomeComputational biologyBiologyGeneticsExome sequencingEvolutionary biologyGeneMutationGenomic variations and chromosomal abnormalitiesGenomics and Rare DiseasesMolecular Biology Techniques and Applications