Patterns of mosaicism for sequence and copy-number variants discovered through clinical deep sequencing of disease-related genes in one million individuals
Rebecca Truty, Susan Rojahn, Karen Ouyang, Curtis Kautzer, Michael Kennemer, Daniel Pineda‐Alvarez, Britt Johnson, Amanda Stafford, Lina Basel‐Vanagaite, Sulagna C. Saitta, Anne Slavotinek, Settara C. Chandrasekharappa, Carlos Jose Suarez, Leslie Burnett, Robert L. Nussbaum, Swaroop Aradhya
Topics & Concepts
BiologyGeneticsPenetranceCopy-number variationDiseaseGeneMendelian inheritanceMosaicPhenotypeGenomeMedicineHistoryPathologyArchaeologyGenomic variations and chromosomal abnormalitiesCancer Genomics and DiagnosticsPrenatal Screening and Diagnostics