Variant Detection in 3' Exons of PMS2 Using Exome Sequencing Data.

Autor: Mistry NA; Division of Computational Biology, Department of Quantitative Health Sciences, Mayo Clinic, Rochester, Minnesota., Roellinger SE; Division of Laboratory Genetics and Genomics, Department of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, Minnesota., Manninen MC; Division of Computational Biology, Department of Quantitative Health Sciences, Mayo Clinic, Rochester, Minnesota., Gandham M; Division of Computational Biology, Department of Quantitative Health Sciences, Mayo Clinic, Rochester, Minnesota., Koganti T; Division of Computational Biology, Department of Quantitative Health Sciences, Mayo Clinic, Rochester, Minnesota., Balan J; Division of Computational Biology, Department of Quantitative Health Sciences, Mayo Clinic, Rochester, Minnesota., Basu S; Division of Computational Biology, Department of Quantitative Health Sciences, Mayo Clinic, Rochester, Minnesota., Blake EJ; Division of Computational Biology, Department of Quantitative Health Sciences, Mayo Clinic, Rochester, Minnesota., Tandale PP; Division of Computational Biology, Department of Quantitative Health Sciences, Mayo Clinic, Rochester, Minnesota., Holdren MA; Division of Laboratory Genetics and Genomics, Department of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, Minnesota., Hoenig MF; Division of Laboratory Genetics and Genomics, Department of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, Minnesota., Urban RM; Division of Laboratory Genetics and Genomics, Department of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, Minnesota., Veith RL; Division of Laboratory Genetics and Genomics, Department of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, Minnesota., Kendzior MC; Department of Information Technology, Mayo Clinic, Rochester, Minnesota., Wang C; Division of Computational Biology, Department of Quantitative Health Sciences, Mayo Clinic, Rochester, Minnesota., Gupta S; Division of Laboratory Genetics and Genomics, Department of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, Minnesota., Shen W; Division of Laboratory Genetics and Genomics, Department of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, Minnesota. Electronic address: shen.wei@mayo.edu.

Publikováno v: The Journal of molecular diagnostics : JMD [J Mol Diagn] 2024 Sep; Vol. 26 (9), pp. 843-850. Date of Electronic Publication: 2024 Jun 24.