How Machine Learning Is Revolutionizing the Diagnosis of Rare Diseases
Public Health Genomics Knowledge Base (v1.2)
Last Posted: Jan-06-2017 0PM
Rare Diseases expanded expanded
Last Posted: Jan 04, 2017
- How Machine Learning Is Revolutionizing the Diagnosis of Rare Diseases
JC Hu, NBC, January 4, 2016 - Resolution of Disease Phenotypes Resulting from Multilocus Genomic Variation
JE Posey et al, NEJM, December 7, 2016 - When One Diagnosis Is Not Enough
KM Boycott et al, NEJM, December 7, 2016 - A comprehensive global genotype–phenotype database for rare diseases
R. Trujillano et al, Molecular Genetics and Genomic Medicine, November 2016 - The Rise and Rise of Exome Sequencing
CS Ku et al, Public Health Genomics, November 2016 - Finding your diagnosis in the brave new world of genetics-based medicine
J Hewitt, Medical Xpress, November 21, 2016 - The need for a next-generation public health response to rare diseases.
Valdez Rodolfo et al. Genetics in medicine : official journal of the American College of Medical Genetics 2016 Oct - Comorbidities and pharmacotherapies in patients with Gaucher disease type 1: The potential for drug-drug interactions.
Utz Jeanine et al. Molecular genetics and metabolism 2016 Feb 117(2) 172-8 - 'IRDiRC Recognized Resources': a new mechanism to support scientists to conduct efficient, high-quality research for rare diseases.
Lochmüller Hanns et al. European journal of human genetics : EJHG 2016 Oct - Commonplace Sequencing Makes Disease Less Rare
J Buguliskis, Clinical Omics, NOvember 1, 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
From CDC Information Database
This database includes general CDC public health information on specific diseases and health related topics. When available, the database displays genomic information from various CDC web pages. Users are also encouraged to conduct searches of CDC website for additional information.
From CDC-Authored Genomics Publication Database
This database contains CDC-authored publications in public health genomics including infectious diseases, newborn screening, reproductive health, genetic testing, cancer, chronic diseases, birth defects and developmental disabilities, environmental and occupational health as well as laboratory, bioinformatics and statistical methods.
- The need for a next-generation public health response to rare diseases.
Valdez Rodolfo et al. Genetics in medicine : official journal of the American College of Medical Genetics 2016 Oct - Public Health and Rare Diseases: Oxymoron No More
Valdez R, et al. Chronic Diseases Volume 13 January 14, 2016 - A statistical approach for rare-variant association testing in affected sibships.
Epstein Michael P et al. Am. J. Hum. Genet. 2015 Apr 2. 96(4) 543-54 - Utilizing population controls in rare-variant case-parent association tests.
Jiang Yu et al. Am. J. Hum. Genet. 2014 Jun 5. 94(6) 845-53 - The use of US health insurance data for surveillance of rare disorders: hereditary hemorrhagic telangiectasia.
Grosse Scott D et al. Genet. Med. 2014 Jan 16(1) 33-9
From Guideline Database
This database contains updated guidelines, policies and recommendations on genomic research and practice, as provided by professional organizations, federal advisory groups, expert panels and policy groups.
- Guidelines for incorporating scientific knowledge and practice on rare diseases into higher education: neuronal ceroid lipofuscinoses as a model disorder.
Published 2015 (Expert panel) - Unexplained developmental delay/learning disability: guidelines for best practice protocol for first line assessment and genetic/metabolic/radiological investigations.
Published 2015 (Expert panel) - Primary immunodeficiency diseases: an update on the classification from the international union of immunological societies expert committee for primary immunodeficiency.
Published 2014 (International Union of Immunological Societies Expert Committee for Primary Immunodeficiency) - A framework to start the debate on neonatal screening policies in the EU: an Expert Opinion Document.
Published 2014 (Expert group)
From HuGE Literature Finder Database
This database contains published literature on genetic associations and other human genome epidemiology
- Genetic variation: ExAC boosts clinical variant interpretation in rare diseases.
Nature reviews. Genetics 2016 Sep 17 (10): 584.
Bahcall Orli - Eosinophilic gastroenteritis in a patient with Bruton's tyrosine kinase deficiency.
Pediatrics international : official journal of the Japan Pediatric Society 2016 Feb .
Yamazaki Susumu, Ohtsuka Yoshikazu, Yokokura Tomoaki, Yokota Rena, Honjo Asuka, Inage Eisuke, Baba Yosuke, Mori Mari, Suzuki Ryuyo, Iwata Tsutomu, Shimizu Toshia - Importance of glucokinase -258G/A polymorphism in Asian Indians with post-transplant and type 2 diabetes mellitus.
Intractable & rare diseases research 2016 Feb 5 (1): 25-30.
Khan Imran Ali, Vattam Kiran Kumar, Jahan Parveen, Hasan Qurratulain, Rao Prag - Ataxia, dystonia and myoclonus in adult patients with Niemann-Pick type C.
Orphanet journal of rare diseases 2016 11 (1): 121.
Koens L H, Kuiper A, Coenen M A, Elting J W J, de Vries J J, Engelen M, Koelman J H T M, van Spronsen F J, Spikman J M, de Koning T J, Tijssen M A - Results from a large targeted screening program for alpha-1-antitrypsin deficiency: 2003 - 2015.
Orphanet journal of rare diseases 2016 11 (1): 75.
Greulich Timm, Nell Christoph, Herr Christian, Vogelmeier Claus, Kotke Viktor, Wiedmann Stefan, Wencker Marion, Bals Robert, Koczulla Andreas Rembe
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