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
- Phenomenal 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