Pooled Functional Assay for All Missense Variants in a Gene

[PMID:27749844] [Nature Genetics]

Prospective functional classification of all possible missense variants in PPARG

“To prospectively characterize PPARγvariants, we used highly parallel oligonucleotide synthesis to construct a library encoding all 9,595 possible single–amino acid substitutions. We developed a pooled functional assay in human macrophages, experimentally evaluated all protein variants, and used the experimental data to train a variant classifier by supervised machine learning.” Work from David Altshuler.


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