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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Detalles Bibliográficos
Autores principales: 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: Texto
Lenguaje:English
Publicado: Public Library of Science 2010
Materias:
Research Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2887469/
https://www.ncbi.nlm.nih.gov/pubmed/20577567
http://dx.doi.org/10.1371/journal.pgen.1000991

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