Kaitlin Samocha
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| Kaitlin Samocha | |
|---|---|
| Born | |
| 🏳️ Citizenship | American |
| 🎓 Alma mater | Harvard University University of Chicago |
| 💼 Occupation | |
| Known for | pLI score |
Kaitlin E. Samocha is a population geneticist and an Assistant Professor at Massachusetts General Hospital.[1] She has published on methods for the analysis of de novo (newly arising) human mutations.[2] She has also developed the probability of loss of function intolerance (pLI) score, a metric to quantitate mutational constraint.[3]
Education[edit]
Samocha studied biological sciences the University of Chicago and received her Ph.D. in genetics and genomics from Harvard University, supervised by Mark Daly.[4]
References[edit]
- ↑ "Kaitlin Samocha - Center for Genomic Medicine". cgm.massgeneral.org. 2022-02-04. Retrieved 18 Oct 2022.
- ↑ Samocha, Kaitlin E.; Robinson, Elise B.; Sanders, Stephan J.; Stevens, Christine; Sabo, Aniko; McGrath, Lauren M.; Kosmicki, Jack A.; Rehnström, Karola; Mallick, Swapan; Kirby, Andrew; Wall, Dennis P.; MacArthur, Daniel G.; Gabriel, Stacey B.; DePristo, Mark; Purcell, Shaun M.; Palotie, Aarno; Boerwinkle, Eric; Buxbaum, Joseph D.; Cook Jr, Edwin H.; Gibbs, Richard A.; Schellenberg, Gerard D.; Sutcliffe, James S.; Devlin, Bernie; Roeder, Kathryn; Neale, Benjamin M.; Daly, Mark J. (1 September 2014). "A framework for the interpretation of de novo mutation in human disease". Nature Genetics. 46 (9): 944–950. doi:10.1038/ng.3050. PMC 4222185. PMID 25086666.
- ↑ "Six lessons for variant interpretation". rarediseasegenomics.org. Retrieved 18 Oct 2022.
- ↑ "Kaitlin Samocha - Center for Genomic Medicine". the-tgg.org/team. 2022-02-04. Retrieved 18 Oct 2022.
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