Exome Sequencing Helps Crack Rare Disease Diagnosis-Clinical analyses of patients’ gene sequences are helping to provide answers where none were available before

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Last Posted: May 03, 2018

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• AACR Project GENIE: Powering Precision Medicine through an International Consortium.  
  et al. Cancer discovery 2017 7(8) 818-831
• Exome Sequencing Helps Crack Rare Disease Diagnosis-Clinical analyses of patients’ gene sequences are helping to provide answers where none were available before.  
  AB Keener, The Scientist, May 1, 2018
• Further delineation of a rare recessive encephalomyopathy linked to mutations in GFER thanks to data sharing of whole exome sequencing data.  
  Nambot S et al. Clinical genetics 2017 Aug 92(2) 188-198
• System for Informatics in the Molecular Pathology Laboratory (SIMPL): An Open-Source End-to-End Solution for Next-Generation Sequencing Clinical Data Management.  
  Kang Wenjun et al. The Journal of molecular diagnostics : JMD 2018 Apr
• Ethics of Genomic Data Sharing: An Interview with Bartha Maria Knoppers  
  Global Alliance for Genomics and Health, Apr 2018
• Hereditary renal cell carcinoma syndromes: diagnosis, surveillance and management.  
  Maher Eamonn R et al. World journal of urology 2018 Apr

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