Next generation sequencing: Coping with rare genetic diseases in China
Author:
Affiliation:
1. Berry Genomics Corporation
2. Department of Anatomy and Developmental Biology, Monash University
Publisher
International Research and Cooperation Association for Bio & Socio-Sciences Advancement (IRCA-BSSA)
Subject
General Medicine
Link
https://www.jstage.jst.go.jp/article/irdr/5/3/5_2016.01020/_pdf
Reference24 articles.
1. 1. Bankier A, Cram DS. Genetic testing: An informed choice. In: The Sorting Society: Ethics of Genetic Testing and Therapy (Thompson J, Skene L, eds.). Cambridge University Press, London, UK, 2008; pp.7-20.
2. 2. Boycott KM, Vanstone MR, Bulman DE, MacKenzie AE. Rare-disease genetics in the era of next-generation sequencing: Discovery to translation. Nat Rev Genet. 2013; 14:681-691.
3. 3. Wang JB, Guo JJ, Yang L, Zhang YD, Sun ZQ, Zhang YJ. Rare disease and legislation in China. Lancet. 2010; 3759716:708-709.
4. 4. Demaliaj E, Cerekja A, Piazze J. Sex chromosome aneuploidies. aneuploidy in health and disease. In: Aneuploidy in health and disease (Storchova Z, eds.). InTech, Shanghai, China, 2012; pp.123-140.
5. 5. Wapner RJ, Martin CL, Levy B, et al. Chromosomal microarray versus karyotyping for prenatal diagnosis. N Engl J Med. 2012; 367:2175-2184.
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