Alternative transcripts in variant interpretation: the potential for missed diagnoses and misdiagnoses
Kelly Schoch, Queenie K.‐G. Tan, Nicholas Stong, Kristen Deak, Allyn McConkie‐Rosell, Marie McDonald, David B. Goldstein, Yong‐Hui Jiang, Vandana Shashi
Topics & Concepts
Medical diagnosisInterpretation (philosophy)MedicineComputational biologyComputer scienceBiologyPathologyProgramming languageGenomics and Rare DiseasesGenetic Syndromes and ImprintingGenetic and Kidney Cyst Diseases