Allelic Expression of Deleterious Protein-Coding Variants across Human Tissues

Allelic Expression of Deleterious Protein-Coding Variants across Human Tissues

Personal exome and genome sequencing provides access to loss-of-function and rare deleterious alleles whose interpretation is expected to provide insight into individual disease burden. However, for each allele, accurate interpretation of its effect will depend on both its penetrance and the trait&#...

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Main Authors: Kukurba, Kimberly R., Zhang, Rui, Li, Xin, Smith, Kevin S., Knowles, David A., How Tan, Meng, Piskol, Robert, Lek, Monkol, Snyder, Michael, MacArthur, Daniel G., Li, Jin Billy, Montgomery, Stephen B.
Format: Text
Language:English
Published: Public Library of Science 2014
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Research Article
Online Access:https://pmc.ncbi.nlm.nih.gov/articles/PMC4006732/
https://pubmed.ncbi.nlm.nih.gov/24786518
http://dx.doi.org/10.1371/journal.pgen.1004304
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https://pmc.ncbi.nlm.nih.gov/articles/PMC4006732/
https://pubmed.ncbi.nlm.nih.gov/24786518
http://dx.doi.org/10.1371/journal.pgen.1004304

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