Whole-genome sequencing in a patient with Charcot-Marie-Tooth neuropathy by Lupski James R, Reid Jeffrey G, Gonzaga-Jauregui Claudia, Rio Deiros David, Chen David C Y, Nazareth Lynne, Bainbridge Matthew, Dinh Huyen, Jing Chyn, Wheeler David A, McGuire Amy L, Zhang Feng, Stankiewicz Pawel, Halperin John J, Yang Chengyong, Gehman Curtis, Guo Danwei, Irikat Rola K, Tom Warren, Fantin Nick J, Muzny Donna M, Gibbs Richard A in The New England journal of medicine (2010).

[PMID: 20220177] PubMed


Whole-genome sequencing may revolutionize medical diagnostics through rapid identification of alleles that cause disease. However, even in cases with simple patterns of inheritance and unambiguous diagnoses, the relationship between disease phenotypes and their corresponding genetic changes can be complicated. Comprehensive diagnostic assays must therefore identify all possible DNA changes in each haplotype and determine which are responsible for the underlying disorder. The high number of rare, heterogeneous mutations present in all humans and the paucity of known functional variants in more than 90% of annotated genes make this challenge particularly difficult. Thus, the identification of the molecular basis of a genetic disease by means of whole-genome sequencing has remained elusive. We therefore aimed to assess the usefulness of human whole-genome sequencing for genetic diagnosis in a patient with Charcot-Marie-Tooth disease.

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