Whole exome sequencing ▲ Public Health Genomics Knowledge Base (v1.2)

Public Health Genomics Knowledge Base (v1.2)






Last Updated: Sep 08, 2016

• Advances in genetics: widening our understanding of prostate cancer.
  Pine Angela C et al. F1000Research 2016 5
• Whole Exome Sequencing in Atrial Fibrillation.
  Lubitz Steven A, et al. PLoS genetics 2016 9 (9) e1006284
• The tight junction gene Claudin-1 is associated with atopic dermatitis among Ethiopians.
  Asad S, et al. Journal of the European Academy of Dermatology and Venereology : JEADV 2016 8
• Utility of Whole Exome Sequencing for Genetic Diagnosis of Previously Undiagnosed Pediatric Neurology Patients.
  Kuperberg Maya, et al. Journal of child neurology 2016 8
• The Current Landscape of Genetic Testing in Cardiovascular Malformations: Opportunities and Challenges.
  Landis Benjamin J et al. Frontiers in cardiovascular medicine 2016 322
• Analysis of large-scale whole exome sequencing data to determine the prevalence of genetically-distinct forms of neuronal ceroid lipofuscinosis.
  Sleat David E, et al. Gene 2016 8
• Immune response-associated gene analysis of 1,000 cancer patients using whole-exome sequencing and gene expression profiling-Project HOPE.
  Akiyama Yasuto, et al. Biomedical research (Tokyo, Japan) 2016 0 (4) 233-42
• 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
• Improving the performance of somatic mutation identification by recovering circulating tumor DNA mutations.
  Fu Yu, et al. Cancer research 2016 8
• Unsolved challenges of clinical whole-exome sequencing: a systematic literature review of end-users' views.
  Bertier Gabrielle et al. BMC medical genomics 2016 9(1) 52
• TERT promoter mutations and chromosome 8p loss are characteristic of nonalcoholic fatty liver disease-related hepatocellular carcinoma.
  Ki Kim Soo, et al. International journal of cancer 2016 8
• Clinical Diagnosis of Mendelian Disorders Using a Comprehensive Gene-Targeted Panel Test for Next-Generation Sequencing.
  Okazaki Tetsuya et al. Yonago acta medica 2016 Jun 59(2) 118-25
• Whole Exome Sequencing Identifies TSC1/TSC2 Biallelic Loss as the Primary and Sufficient Driver Event for Renal Angiomyolipoma Development.
  Giannikou Krinio, et al. PLoS genetics 2016 8 (8) e1006242
• Rare Variation in TET2 Is Associated with Clinically Relevant Prostate Carcinoma in African-Americans.
  Koboldt Daniel C, et al. Cancer epidemiology, biomarkers & prevention : a publication of the American Association for Cancer Research, cosponsored by the American Society of Preventive Oncology 2016 8

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Relevant Resources

• Cancer Genomics and Epidemiology Navigator (CGEN)
• Genetics and Genomics Competencies Center (G2C2)
• NIH Genetic Testing Registry
• NIH MedGen Database
• Online Mendelian Inheritance in Man (OMIM)
• PharmGKB