Resolving the 22q11.2 deletion using CTLR-Seq reveals chromosomal rearrangement mechanisms and individual variance in breakpoints.

Autor: Zhou B; Department of Psychiatry and Behavioral Sciences, Stanford University School of Medicine, Stanford, CA 94305.; Stanford Maternal and Child Health Research Institute, Stanford University School of Medicine, Stanford, CA 94305., Purmann C; Department of Psychiatry and Behavioral Sciences, Stanford University School of Medicine, Stanford, CA 94305.; Stanford Maternal and Child Health Research Institute, Stanford University School of Medicine, Stanford, CA 94305.; Department of Genetics, Stanford University School of Medicine, Stanford, CA 94305., Guo H; Department of Psychiatry and Behavioral Sciences, Stanford University School of Medicine, Stanford, CA 94305.; Stanford Maternal and Child Health Research Institute, Stanford University School of Medicine, Stanford, CA 94305.; Department of Genetics, Stanford University School of Medicine, Stanford, CA 94305.; Department of Statistics, Stanford University, Stanford, CA 94305.; Department of Biomedical Data Science, Stanford University School of Medicine, Stanford, CA 94305., Shin G; Division of Oncology, Department of Medicine, Stanford University School of Medicine, Stanford, CA 94305., Huang Y; Department of Psychiatry and Behavioral Sciences, Stanford University School of Medicine, Stanford, CA 94305.; Department of Genetics, Stanford University School of Medicine, Stanford, CA 94305., Pattni R; Department of Psychiatry and Behavioral Sciences, Stanford University School of Medicine, Stanford, CA 94305.; Department of Genetics, Stanford University School of Medicine, Stanford, CA 94305., Meng Q; Division of Oncology, Department of Medicine, Stanford University School of Medicine, Stanford, CA 94305., Greer SU; Division of Oncology, Department of Medicine, Stanford University School of Medicine, Stanford, CA 94305., Roychowdhury T; Division of Computational Biology, Department of Quantitative Health Sciences, Mayo Clinic, Rochester, MN 55905., Wood RN; Division of Oncology, Department of Medicine, Stanford University School of Medicine, Stanford, CA 94305., Ho M; Department of Psychiatry and Behavioral Sciences, Stanford University School of Medicine, Stanford, CA 94305.; Department of Genetics, Stanford University School of Medicine, Stanford, CA 94305., Dohna HZ; Department of Biology, American University of Beirut, Beirut 1107 2020, Lebanon., Abyzov A; Division of Computational Biology, Department of Quantitative Health Sciences, Mayo Clinic, Rochester, MN 55905., Hallmayer JF; Department of Psychiatry and Behavioral Sciences, Stanford University School of Medicine, Stanford, CA 94305., Wong WH; Department of Statistics, Stanford University, Stanford, CA 94305.; Department of Biomedical Data Science, Stanford University School of Medicine, Stanford, CA 94305., Ji HP; Division of Oncology, Department of Medicine, Stanford University School of Medicine, Stanford, CA 94305., Urban AE; Department of Psychiatry and Behavioral Sciences, Stanford University School of Medicine, Stanford, CA 94305.; Stanford Maternal and Child Health Research Institute, Stanford University School of Medicine, Stanford, CA 94305.; Department of Genetics, Stanford University School of Medicine, Stanford, CA 94305.; Program on Genetics of Brain Function, Stanford Center for Genomics and Personalized Medicine, Stanford University School of Medicine, Stanford, CA 94305.

Publikováno v: Proceedings of the National Academy of Sciences of the United States of America [Proc Natl Acad Sci U S A] 2024 Jul 30; Vol. 121 (31), pp. e2322834121. Date of Electronic Publication: 2024 Jul 23.