Article
Molecular diagnosis of infantile mitochondrial disease with targeted next-generation sequencing.
Science translational medicine - 25 Jan 2012
Calvo Sarah E, Compton Alison G, Hershman Steven G, Lim Sze Chern, Lieber Daniel S, Tucker Elena J, Laskowski Adrienne, Garone Caterina, Liu Shangtao, Jaffe David B, Christodoulou John, Fletcher Janice M, Bruno Damien L, Goldblatt Jack, Dimauro Salvatore, Thorburn David R, Mootha Vamsi K
Abstract excerpt
Advances in next-generation sequencing (NGS) promise to facilitate diagnosis of inherited disorders. Although in research settings NGS has pinpointed causal alleles using segregation in large families, the key challenge for clinical diagnosis is application to single individuals. To explore its diagnostic use, we performed targeted NGS in 42 unrelated infants with clinical and biochemical evidence of...
Topics
- Amino Acid Sequence
- Base Sequence
- Case-Control Studies
- Cell Nucleus
- Child
- Child, Preschool
- DNA, Mitochondrial
- Electron Transport Complex I
- Exome