Research & Development

Academic Report

Paper Publication

Clinical and analytical validation of an 82-gene comprehensive genome-profiling panel for identifying and interpreting variants responsible for inherited retinal dystrophies

Presented by:        Jacqueline Chan1), Jolyon Holdstock1), John Shovelton1),
James Reid1), Graham Speight1), Duarte Molha1),
Venu Pullabhatla1), Stephanie Carpenter1), Ezam Uddin1),
Takanori Washio2)3), Hiroko Sato2), Yuuki Izumi4),
Reiko Watanabe5), Hayato Niiro5), Yoshiyuki Fukushima5),
Naoko Ashida5), Takashi Hirose5), Akiko Maeda6)
  1) Oxford Gene Technology Operations Limited
2) Life Innovation Center, Riken Genesis Co. LTD
3) Division of Clinical Cancer Genomics, Hokkaido University Hospital
4) Technology Innovation, Sysmex Corporation
5) Medical & Scientific Affairs, Sysmex Corporation
6) Department of Ophthalmology, Kobe City Eye Hospital

 
Journal: PLOS ONE
 
DOI: https://doi.org/10.1371/journal.pone.0305422
 

 

 
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