Pathogenicity and functional impact of non-frameshifting insertion/deletion variation in the human genome

Differentiation between phenotypically neutral and disease-causing genetic variation remains an open and relevant problem. Among different types of variation, non-frameshifting insertions and deletions (indels) represent an understudied group with widespread phenotypic consequences. To address this...

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Publicat a:PLoS Comput Biol
Autors principals: Pagel, Kymberleigh A., Antaki, Danny, Lian, AoJie, Mort, Matthew, Cooper, David N., Sebat, Jonathan, Iakoucheva, Lilia M., Mooney, Sean D., Radivojac, Predrag
Format: Artigo
Idioma:Inglês
Publicat: Public Library of Science 2019
Matèries:
Research Article
Accés en línia:https://ncbi.nlm.nih.gov/pmc/articles/PMC6594643/
https://ncbi.nlm.nih.gov/pubmed/31199787
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1371/journal.pcbi.1007112
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