Clinical whole-exome sequencing for the diagnosis of rare disorders with congenital anomalies and/or intellectual disability: substantial interest of prospective annual reanalysis.

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Last Posted: Nov 02, 2018

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• Clinical whole-exome sequencing for the diagnosis of rare disorders with congenital anomalies and/or intellectual disability: substantial interest of prospective annual reanalysis.
  Nambot Sophie et al. Genetics in medicine : official journal of the American College of Medical Genetics 2018 20(6) 645-654
• Protecting Participants, Empowering Researchers: Providing Access to Genomic Summary Results
  ED Green et al, NHGRI, November 1, 2018
• The Medical Genome Reference Bank: a whole-genome data resource of 4000 healthy elderly individuals. Rationale and cohort design.
  Lacaze Paul et al. European journal of human genetics : EJHG 2018 Oct
• An infrastructure for precision medicine through analysis of big data.
  Moscatelli Marco et al. BMC bioinformatics 2018 Oct 19(Suppl 10) 351
• How Sensitive Is Genetic Data?
  Sariyar Murat et al. Biopreservation and biobanking 2017 Dec 15(6) 494-501
• ClinGen's GenomeConnect registry enables patient-centered data sharing.
  Savatt Juliann M et al. Human mutation 2018 Nov 39(11) 1668-1676
• ClinVar database of global familial hypercholesterolemia-associated DNA variants.
  Iacocca Michael A et al. Human mutation 2018 Nov 39(11) 1631-1640
• Complexity of Delivering Precision Medicine: Opportunities and Challenges.
  Davis Andrew A et al. American Society of Clinical Oncology educational book. American Society of Clinical Oncology. Annual Meeting 2018 May (38) 998-1007
• Promise of Precision Medicine in Psychiatry Nears Reality
  L Davenport, Medscape, October 1o, 2018
• The value of genomic variant ClinVar submissions from clinical providers: Beyond the addition of novel variants.
  Wain Karen E et al. Human mutation 2018 Nov 39(11) 1660-1667

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