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Using ALoFT to determine the impact of putative loss-of-function variants in protein-coding genes

Variants predicted to result in the loss of function of human genes have attracted interest because of their clinical impact and surprising prevalence in healthy individuals. Here, we present ALoFT (annotation of loss-of-function transcripts), a method to annotate and predict the disease-causing pot...

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Vydáno v:Nat Commun
Hlavní autoři: Balasubramanian, Suganthi, Fu, Yao, Pawashe, Mayur, McGillivray, Patrick, Jin, Mike, Liu, Jeremy, Karczewski, Konrad J., MacArthur, Daniel G., Gerstein, Mark
Médium: Artigo
Jazyk:Inglês
Vydáno: Nature Publishing Group UK 2017
Témata:
On-line přístup:https://ncbi.nlm.nih.gov/pmc/articles/PMC5575292/
https://ncbi.nlm.nih.gov/pubmed/28851873
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/s41467-017-00443-5
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