Detection of Genomic Variation by Selection of a 9 Mb DNA Region and High Throughput Sequencing

Detection of the rare polymorphisms and causative mutations of genetic diseases in a targeted genomic area has become a major goal in order to understand genomic and phenotypic variability. We have interrogated repeat-masked regions of 8.9 Mb on human chromosomes 21 (7.8 Mb) and 7 (1.1 Mb) from an i...

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Detalles Bibliográficos
Autores principales: Nikolaev, Sergey I., Iseli, Christian, Sharp, Andrew J., Robyr, Daniel, Rougemont, Jacques, Gehrig, Corinne, Farinelli, Laurent, Antonarakis, Stylianos E.
Formato: Texto
Lenguaje:English
Publicado: Public Library of Science 2009
Materias:
Research Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2722027/
https://www.ncbi.nlm.nih.gov/pubmed/19684856
http://dx.doi.org/10.1371/journal.pone.0006659

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2722027/
https://www.ncbi.nlm.nih.gov/pubmed/19684856
http://dx.doi.org/10.1371/journal.pone.0006659

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