Distribution and clinical impact of functional variants in 50,726 whole-exome sequences from the DiscovEHR study

Public Health Genomics Knowledge Base (v1.2)

Last Posted: Dec-23-2016 2PM

 Whole Exome Sequencingcollapsed collapsed

Exome Study Reveals Novel Disease-Linked Alleles
A Azvolinsky, the Scientist, December 23, 2016

Distribution and clinical impact of functional variants in 50,726 whole-exome sequences from the DiscovEHR study
FE Dewey et al, Science, December 22, 2016

“Pheno”menal value for human health
DJ Rader et al, Science, December 22, 2016

More information on this topic

Last Posted: Dec 23, 2016

---

• Distribution and clinical impact of functional variants in 50,726 whole-exome sequences from the DiscovEHR study
  FE Dewey et al, Science, December 22, 2016
• Exome Study Reveals Novel Disease-Linked Alleles
  A Azvolinsky, the Scientist, December 23, 2016
• “Pheno”menal value for human health
  DJ Rader et al, Science, December 22, 2016
• The diagnostic yield of whole-exome sequencing targeting a gene panel for hearing impairment in The Netherlands.
  Zazo Seco Celia et al. European journal of human genetics : EJHG 2016 Dec
• The diagnostic yield of whole-exome sequencing targeting a gene panel for hearing impairment in The Netherlands
  CZ Zeko et al, Eur J Hum Genetics, December 21, 2016
• Diagnostics of Primary Immunodeficiencies through Next-Generation Sequencing.
  Gallo Vera et al. Frontiers in immunology 2016 7466
• Is the $1000 Genome as Near as We Think? A Cost Analysis of Next-Generation Sequencing.
  van Nimwegen Kirsten J M et al. Clinical chemistry 2016 Nov 62(11) 1458-1464
• Regulating whole exome sequencing as a diagnostic test.
  Lapin Valentina et al. Human genetics 2016 Jun 135(6) 655-73
• Reporting Incidental Findings in Clinical Whole Exome Sequencing: Incorporation of the 2013 ACMG Recommendations into Current Practices of Genetic Counseling.
  Smith Lacey A et al. Journal of genetic counseling 2015 Aug 24(4) 654-62
• The cancer precision medicine knowledge base for structured clinical-grade mutations and interpretations.
  Huang Linda et al. Journal of the American Medical Informatics Association : JAMIA 2016 Oct
• Family Based Whole Exome Sequencing Reveals the Multifaceted Role of Notch Signaling in Congenital Heart Disease
  C Preus et al, PLOS Genetics, October 2016
• Content Analysis of Informed Consent for whole Genome Sequencing Offered by Direct-to-Consumer Genetic testing Companies.
  Niemiec Emilia et al. Human mutation 2016 Sep
• Advances in genetics: widening our understanding of prostate cancer.
  Pine Angela C et al. F1000Research 2016 5
• The Current Landscape of Genetic Testing in Cardiovascular Malformations: Opportunities and Challenges.
  Landis Benjamin J et al. Frontiers in cardiovascular medicine 2016 322
• Genetic testing and genetic counseling for amyotrophic lateral sclerosis: an update for clinicians.
  Roggenbuck Jennifer et al. Genetics in medicine : official journal of the American College of Medical Genetics 2016 Aug
• Prenatal Whole Exome Sequencing; the Views of Clinicians, Scientists, Genetic Counsellors and Patient Representatives.
  Quinlan-Jones Elizabeth et al. Prenatal diagnosis 2016 Aug