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Genetics in Medicine 2

Showing records 1 to 2 | Display all abstracts in Genetics in Medicine

59149 Whole-mitochondrial genome sequencing in primary open-angle glaucoma using massively parallel sequencing identifies novel and known pathogenic variants
Sundaresan P; Simpson DA; Sambare C; Duffy S; Lechner J; Dastane A; Dervan EW; Vallabh N; Chelerkar V; Deshpande M; O'Brien C; McKnight AJ; Willoughby CE
Genetics in Medicine 2015; 17: 279-284

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59540 Panel-based genetic diagnostic testing for inherited eye diseases is highly accurate and reproducible, and more sensitive for variant detection, than exome sequencing
Consugar MB; Navarro-Gomez D; Place EM; Bujakowska KM; Sousa ME; Fonseca-Kelly ZD; Taub DG; Janessian M; Wang DY; Au ED; Sims KB; Sweetser DA; Fulton AB; Liu Q; Wiggs JL; Gai X; Pierce EA
Genetics in Medicine 2015; 17: 253-261

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