Clinical validation of RNA sequencing for Mendelian disorder diagnostics
Sen Zhao, Kristina Macakova, Jefferson Sinson, Hongzheng Dai, Jill A. Rosenfeld, Gladys Zapata, Shenglan Li, Patricia A. Ward, Christiana Wang, Chunjing Qu, Becky Maywald, Brendan Lee, Christine M. Eng, Pengfei Liu
Topics & Concepts
Mendelian inheritanceComputational biologyBiologyGeneticsComputer scienceGeneGenomics and Rare DiseasesGenetic factors in colorectal cancerCancer Genomics and Diagnostics