The origin, evolution, and functional impact of short insertion–deletion variants identified in 179 human genomes

Short insertions and deletions (indels) are the second most abundant form of human genetic variation, but our understanding of their origins and functional effects lags behind that of other types of variants. Using population-scale sequencing, we have identified a high-quality set of 1.6 million ind...

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Detalles Bibliográficos
Autores principales: Montgomery, Stephen B., Goode, David L., Kvikstad, Erika, Albers, Cornelis A., Zhang, Zhengdong D., Mu, Xinmeng Jasmine, Ananda, Guruprasad, Howie, Bryan, Karczewski, Konrad J., Smith, Kevin S., Anaya, Vanessa, Richardson, Rhea, Davis, Joe, MacArthur, Daniel G., Sidow, Arend, Duret, Laurent, Gerstein, Mark, Makova, Kateryna D., Marchini, Jonathan, McVean, Gil, Lunter, Gerton
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Cold Spring Harbor Laboratory Press 2013
Materias:
Research
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3638132/
https://www.ncbi.nlm.nih.gov/pubmed/23478400
http://dx.doi.org/10.1101/gr.148718.112

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