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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...
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. |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Elsevier
2014
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Materias: | |
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 |
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