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Non‐Profit Patient Research Services from Rare Genomics Institute Enable Insight into Rare Diseases through Genome Sequencing and Cloud Collaboration
Author(s) -
Tucker Brady,
Aguilar Elizabeth,
Gur Daniel
Publication year - 2016
Publication title -
the faseb journal
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.709
H-Index - 277
eISSN - 1530-6860
pISSN - 0892-6638
DOI - 10.1096/fasebj.30.1_supplement.665.20
Subject(s) - exome sequencing , exome , cloud computing , rare disease , data science , precision medicine , genomics , multidisciplinary approach , medicine , disease , bioinformatics , computer science , computational biology , genome , biology , genetics , pathology , gene , political science , mutation , operating system , law
The non‐profit Rare Genomics Institute (RG) helps provide rare disease patients with access to cutting‐edge molecular biotechnology and analytical expertise with the potential to uncover new directions for research, treatment, and support. As volunteer analysts for RG, we analyzed the exome sequence data of patients with as‐yet undiagnosed diseases with a suspected underlying genetic cause. Data analysis is performed with Omicia Opal, a web‐based genome interpretation and reporting software platform integrating the machine learning algorithms VAAST and Phevor. We summarize our use of the Omicia Opal platform in three cases that represent the range of outcomes that can result from exome analysis; in one case we identified a likely pathogenic variant in the RDH12, associated with Leber's congenital amourosis; in a second case we identified a possibly pathogenic variant in IFT140, associated with Jeune syndrome; and in a third case we identified variants of uncertain significance in genes associated with Sotos and Weaver syndrome. We also outline the additional work RG analysts do to prepare an informative report for the family and their physician, and to connect the family and clinicians to experts who may be able to move their case forward. While definitive answers are still uncommon in exome analysis, the research of RG analysts can provide new leads in a difficult case. Moreover, undergraduate students can make meaningful contributions to patient‐centered rare disease research provided that expert guidance and oversight are in place. Support or Funding Information Funding provided by DePauw University