Whole-Genome Sequencing of a Single Proband Together with Linkage Analysis Identifies a Mendelian Disease Gene

Although more than 2,400 genes have been shown to contain variants that cause Mendelian disease, there are still several thousand such diseases yet to be molecularly defined. The ability of new whole-genome sequencing technologies to rapidly indentify most of the genetic variants in any given genome...

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Detalhes bibliográficos
Main Authors: Sobreira, Nara L. M., Cirulli, Elizabeth T., Avramopoulos, Dimitrios, Wohler, Elizabeth, Oswald, Gretchen L., Stevens, Eric L., Ge, Dongliang, Shianna, Kevin V., Smith, Jason P., Maia, Jessica M., Gumbs, Curtis E., Pevsner, Jonathan, Thomas, George, Valle, David, Hoover-Fong, Julie E., Goldstein, David B.
Formato: Artigo
Idioma:Inglês
Publicado em: Public Library of Science 2010
Assuntos:
Research Article
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC2887469/
https://ncbi.nlm.nih.gov/pubmed/20577567
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1371/journal.pgen.1000991
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