Prospective functional classification of all possible missense variants in PPARG

@inproceedings{Majithia2016ProspectiveFC,
  title={Prospective functional classification of all possible missense variants in PPARG},
  author={Amit R. Majithia and Ben Tsuda and Maura Agostini and Keerthana Gnanapradeepan and Robert C. Rice and Gina Marie Peloso and Kashyap A Patel and Xiaolan Zhang and Marjoleine F. Broekema and Nick J. Patterson and Marc Duby and Ted Sharpe and Eric Kalkhoven and Evan D Rosen and In{\^e}s Barroso and Sian Ellard and Sekar Kathiresan and Stephen O’Rahilly and Krishna K Chatterjee and Jose C Florez and Tarjei S. Mikkelsen and David B Savage and David M Altshuler},
  booktitle={Nature Genetics},
  year={2016}
}
Clinical exome sequencing routinely identifies missense variants in disease-related genes, but functional characterization is rarely undertaken, leading to diagnostic uncertainty. For example, mutations in PPARG cause Mendelian lipodystrophy and increase risk of type 2 diabetes (T2D). Although approximately 1 in 500 people harbor missense variants in PPARG, most are of unknown consequence. To prospectively characterize PPARγ variants, we used highly parallel oligonucleotide synthesis to… CONTINUE READING
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