Autor: "Schultz-Rogers LE" - OpacWWW

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Tytuł:: A tailored approach to fusion transcript identification increases diagnosis of rare inherited disease.
Autorzy:: Oliver GR; Department of Health Sciences Research, Mayo Clinic, Rochester, Minnesota, United States of America.; Center for Individualized Medicine, Mayo Clinic, Rochester, Minnesota, United States of America.
Tang X; Department of Health Sciences Research, Mayo Clinic, Rochester, Minnesota, United States of America.; Center for Individualized Medicine, Mayo Clinic, Rochester, Minnesota, United States of America.
Schultz-Rogers LE; Department of Health Sciences Research, Mayo Clinic, Rochester, Minnesota, United States of America.; Center for Individualized Medicine, Mayo Clinic, Rochester, Minnesota, United States of America.
Vidal-Folch N; Department of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, Minnesota, United States of America.
Jenkinson WG; Department of Health Sciences Research, Mayo Clinic, Rochester, Minnesota, United States of America.; Center for Individualized Medicine, Mayo Clinic, Rochester, Minnesota, United States of America.
Schwab TL; Department of Biochemistry and Molecular Biology, Mayo Clinic, Rochester, Minnesota, United States of America.
Gaonkar K; Department of Health Sciences Research, Mayo Clinic, Rochester, Minnesota, United States of America.; Center for Individualized Medicine, Mayo Clinic, Rochester, Minnesota, United States of America.
Cousin MA; Department of Health Sciences Research, Mayo Clinic, Rochester, Minnesota, United States of America.; Center for Individualized Medicine, Mayo Clinic, Rochester, Minnesota, United States of America.
Nair A; Department of Health Sciences Research, Mayo Clinic, Rochester, Minnesota, United States of America.; Center for Individualized Medicine, Mayo Clinic, Rochester, Minnesota, United States of America.
Basu S; Department of Health Sciences Research, Mayo Clinic, Rochester, Minnesota, United States of America.; Center for Individualized Medicine, Mayo Clinic, Rochester, Minnesota, United States of America.
Chanana P; Department of Health Sciences Research, Mayo Clinic, Rochester, Minnesota, United States of America.; Center for Individualized Medicine, Mayo Clinic, Rochester, Minnesota, United States of America.
Oglesbee D; Department of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, Minnesota, United States of America.; Department of Medical Genetics, Mayo Clinic, Rochester, Minnesota, United States of America.
Klee EW; Department of Health Sciences Research, Mayo Clinic, Rochester, Minnesota, United States of America.; Center for Individualized Medicine, Mayo Clinic, Rochester, Minnesota, United States of America.; Department of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, Minnesota, United States of America.; Department of Clinical Genomics, Mayo Clinic, Rochester, Minnesota, United States of America.; Pokaż więcej
Źródło:: PloS one [PLoS One] 2019 Oct 02; Vol. 14 (10), pp. e0223337. Date of Electronic Publication: 2019 Oct 02 (Print Publication: 2019).
Typ publikacji:: Journal Article; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't
MeSH Terms:: Genetic Association Studies*/methods
Genetic Predisposition to Disease*
Genetic Diseases, Inborn/*diagnosis
Genetic Diseases, Inborn/*genetics
Mutant Chimeric Proteins/*genetics
Rare Diseases/*diagnosis
Rare Diseases/*genetics
Adolescent ; Adult ; Aged ; Child ; Child, Preschool ; Female ; Genetic Markers ; Humans ; Infant ; Inheritance Patterns ; Male ; Middle Aged ; Phenotype ; Workflow ; Young Adult

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