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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

2023The American Journal of Human Genetics25 citationsDOIOpen Access PDF

Topics & Concepts

BiologyGeneticsPenetranceCopy-number variationDiseaseGeneMendelian inheritanceMosaicPhenotypeGenomeMedicineHistoryPathologyArchaeologyGenomic variations and chromosomal abnormalitiesCancer Genomics and DiagnosticsPrenatal Screening and Diagnostics
Patterns of mosaicism for sequence and copy-number variants discovered through clinical deep sequencing of disease-related genes in one million individuals | Litcius