Rare diseases || Public Health Genomics Knowledge Base (v1.2)

Public Health Genomics Knowledge Base (v1.2)

 Rare Diseases expanded expanded

The need for a next-generation public health response to rare diseases
R Valdez et al, Genetics in Medicine, October 27, 2016

The collective impact of rare diseases in Western Australia: an estimate using a population-based cohort
CE Walker et al, Genetics in Medicine, September 22, 2016

Medical disorders: Stop marginalizing rare syndromes
SO Kolset, Nature, August 2016

More information on this topic

Last Updated: Oct 27, 2016

• The need for a next-generation public health response to rare diseases
  R Valdez et al, Genetics in Medicine, October 27, 2016
• The alliance between genetic biobanks and patient organisations: the experience of the telethon network of genetic biobanks.
  Baldo Chiara et al. Orphanet journal of rare diseases 2016 Oct 11(1) 142
• USE OF GENOME DATA IN NEWBORNS AS A STARTING POINT FOR LIFE-LONG PRECISION MEDICINE.
  Brenner Steven E et al. Pacific Symposium on Biocomputing. Pacific Symposium on Biocomputing 2016 21568-75
• Next generation sequencing: Coping with rare genetic diseases in China.
  Cram David S et al. Intractable & rare diseases research 2016 Aug 5(3) 140-4
• The collective impact of rare diseases in Western Australia: an estimate using a population-based cohort.
  Walker Caroline E et al. Genetics in medicine : official journal of the American College of Medical Genetics 2016 Sep
• The collective impact of rare diseases in Western Australia: an estimate using a population-based cohort
  CE Walker et al, Genetics in Medicine, September 22, 2016
• Genetic variation: ExAC boosts clinical variant interpretation in rare diseases.
  Bahcall Orli G, et al. Nature reviews. Genetics 2016 9 (10) 584
• Let the Individuals Directly Concerned Decide: A Solution to Tragic Choices in Genetic Risk Information.
  Oliveri Serena et al. Public health genomics 2016 Sep 19(5)
• Privacy: The myth of anonymity.
  Savage Neil et al. Nature 2016 537(7619) S70-2
• Ataxia, dystonia and myoclonus in adult patients with Niemann-Pick type C.
  Koens L H, et al. Orphanet journal of rare diseases 2016 0 (1) 121
• Medical disorders: Stop marginalizing rare syndromes
  SO Kolset, Nature, August 2016
• Improving diagnosis of inherited peripheral neuropathies through gene panel analysis.
  Laššuthová Petra, et al. Orphanet journal of rare diseases 2016 0 (1) 118
• Collaborative Crowdsourcing for the Diagnosis of Rare Genetic Syndromes: The DYSCERNE Experience.
  Douzgou Sofia et al. Public health genomics 2016 19(1) 19-24
• Candidate-gene criteria for clinical reporting: diagnostic exome sequencing identifies altered candidate genes among 8% of patients with undiagnosed diseases
  Kelly D. Farwell Hagman et al, Genetics in Medicine, August 11, 2016
• Ultra-rare Disease and Genomics-Driven Precision Medicine.
  Lee Sangmoon et al. Genomics & informatics 2016 Jun (2) 42-5

• CDC Information (1)
• CDC-Authored Pub (6)

• Human (29)
• Pathogen (0)

• Human (103)
• Pathogen (0)

• Human (28)
• Pathogen (0)

• Guidelines (4)
• Tier Table (0)
• Synthesis (5)

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