Transcriptome Sequencing of a Large Human Family Identifies the Impact of Rare Noncoding Variants

Recent and rapid human population growth has led to an excess of rare genetic variants that are expected to contribute to an individual’s genetic burden of disease risk. To date, much of the focus has been on rare protein-coding variants, for which potential impact can be estimated from the genetic...

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Detalles Bibliográficos
Autores principales: Li, Xin, Battle, Alexis, Karczewski, Konrad J., Zappala, Zach, Knowles, David A., Smith, Kevin S., Kukurba, Kim R., Wu, Eric, Simon, Noah, Montgomery, Stephen B.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Elsevier 2014
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4157143/
https://www.ncbi.nlm.nih.gov/pubmed/25192044
http://dx.doi.org/10.1016/j.ajhg.2014.08.004

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4157143/
https://www.ncbi.nlm.nih.gov/pubmed/25192044
http://dx.doi.org/10.1016/j.ajhg.2014.08.004

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