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...

Fuld beskrivelse

Na minha lista:
Bibliografiske detaljer
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.
Format: Artigo
Sprog:Inglês
Udgivet: Public Library of Science 2010
Fag:
Research Article
Online adgang: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
Tags: Tilføj Tag
Ingen Tags, Vær først til at tagge denne postø!

Lignende værker