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2013, Public health in the 21st century, ISBN 9781629485263
Web Resource
by Wangler, Michael F and Yamamoto, Shinya and Chao, Hsiao-Tuan and Posey, Jennifer E and Westerfield, Monte and Postlethwait, John and Hieter, Philip and Boycott, Kym M and Campeau, Philippe M and Bellen, Hugo J and Adams, David R and Hanchard, Neil A and Papp, Jeanette C and Alejandro, Mercedes E and Handley, Lori H and Parker, Neil H and Allard, Patrick and Herzog, Matthew R and Pena, Loren D. M and Ashley, Euan A and Holm, Ingrid A and Phillips, John A and Azamian, Mahshid S and Howerton, Ellen M and Bacino, Carlos A and Jacob, Howard J and Postlethwait, John H and Balasubramanyam, Ashok and Jain, Mahim and Potocki, Lorraine and Barseghyan, Hayk and Jiang, Yong-Hui and Pusey, Barbara N and Beggs, Alan H and Johnston, Jean M and Ramoni, Rachel B and Jones, Angela L and Robertson, Amy K and Bernstein, Jonathan A and Koeller, David M and Rodan, Lance H and Bican, Anna and Kohane, Isaac S and Rosenfeld, Jill A and Bick, David P and Kohler, Jennefer N and Samson, Susan L and Birch, Camille L and Krasnewich, Donna M and Schoch, Kelly and Boone, Braden E and Krieg, Elizabeth L and Schroeder, Molly C and Bostwick, Bret L and Krier, Joel B and Scott, Daryl A and Briere, Lauren C and Kyle, Jennifer E and Sharma, Prashant and Brown, Donna M and Lalani, Seema R and Shashi, Vandana and Brush, Matthew and Lau, C. Christopher and Silverman, Edwin K and Burke, Elizabeth A and Lazar, Jozef and Sinsheimer, Janet S and Burrage, Lindsay C and Lee, Brendan H and Soldatos, Ariane G and Chen, Shan and Lee, Hane and Spillmann, Rebecca C and Clark, Gary D and Levy, Shawn E and Splinter, Kimberly and Cogan, Joy D and Lewis, Richard A and Stoler, Joan M and Cooper, Cynthia M and Lincoln, Sharyn A and Stong, Nicholas and Craigen, William J and Lipson, Allen and Strong, Kimberly A and Davids, Mariska and Loo, Sandra K and Sullivan, Jennifer A and Dayal, Jyoti G and Loscalzo, Joseph and Sweetser, David A and Dell'Angelica, Esteban C and Maas, Richard L and Tifft, Cynthia J and Dhar, Shweta U and Macnamara, Ellen F and Toro, Camilo and Dillon, Ani and MacRae, Calum A and ... and UDN and Members of the Undiagnosed Diseases Network (UDN)
Genetics, ISSN 0016-6731, 2017, Volume 207, Issue 1, pp. 9 - 27
Journal Article
Genetics in Medicine, ISSN 1098-3600, 2019, Volume 21, Issue 9, pp. 2126 - 2134
Purpose: Despite the successful progress next-generation sequencing technologies has achieved in diagnosing the genetic cause of rare Mendelian diseases, the... 
ACMG/AMP guideline | rare disease diagnosis | machine learning | variant prioritization | phenotype score | PLATFORM | PATHOGENICITY | GENETICS & HEREDITY | FRAMEWORK | MEDICAL GENETICS | SEMANTIC SIMILARITY | ACMG | AMP guideline
Journal Article
Translational Research, ISSN 1931-5244, 04/2019, Volume 206, pp. 5 - 17
The National Institutes of Health (NIH) Undiagnosed Diseases Program (UDP) studies rare genetic disorders not only to achieve diagnoses, but to understand... 
Phenotype | Rare Diseases - blood | Glycomics | Humans | Rare Diseases - diagnosis | Rare Diseases - urine | Rare Diseases - metabolism | Phosphates | Medical research | Polysaccharides | Genetic disorders | Ligases | Medicine, Experimental | Diagnosis | Mass spectrometry
Journal Article
中国科学:生命科学英文版, ISSN 1674-7305, 2017, Volume 60, Issue 7, pp. 681 - 685
Rare diseases are chronic and serious,featuring early onset at birth or in childhood,rapid deterioration and high mortality rate,which creates a burden on... 
诊断 | Song | 中国 | 疾病 | 卫生系统 | 死亡率 | 患者 | Life Sciences | Life Sciences, general | BIOLOGY | Uveitis - diagnosis | Rhabdomyosarcoma - diagnosis | China | Humans | Arthritis - diagnosis | Rare Diseases - diagnosis | Bardet-Biedl Syndrome - diagnosis | Synovitis - diagnosis | Genetic Diseases, Inborn - diagnosis
Journal Article
by Jia, JM and Wang, RY and An, ZX and Guo, YL and Ni, X and Shi, TL
FRONTIERS IN GENETICS, ISSN 1664-8021, 12/2018, Volume 9, p. 587
DNA sequencing has allowed for the discovery of the genetic cause for a considerable number of diseases, paving the way for new disease diagnostics. However,... 
phenotype | web-based tools | rare disease | DATABASE | INFORMATION | GENES | GENETICS & HEREDITY | machine learning | diagnostic model | DECISION-SUPPORT | Rare diseases | Usage | Nucleotide sequencing | Diagnosis | Machine learning | DNA sequencing
Journal Article
Personalized Medicine, ISSN 1741-0541, 09/2016, Volume 13, Issue 5, pp. 415 - 418
Congenica (Cambridge, UK) is a world leading developer of genome-based discovery and diagnostic technologies. The UK company is a spin-out from the Wellcome... 
analytics | exome analysis | rare disease | genetic testing | Genomics England | whole-genome analysis | clinical phenotype | molecular diagnosis | PHARMACOLOGY & PHARMACY
Journal Article
The American Journal of Human Genetics, ISSN 0002-9297, 05/2017, Volume 100, Issue 5, pp. 695 - 705
Journal Article