@article {136,
	title = {Titin Truncating Variants in Adults Without Known Congestive Heart~Failure.},
	journal = {J Am Coll Cardiol},
	volume = {75},
	year = {2020},
	month = {2020 03 17},
	pages = {1239-1241},
	keywords = {Adult, Aged, Asymptomatic Diseases, Connectin, Female, Genetic Variation, Heart Failure, Humans, Male, Middle Aged},
	issn = {1558-3597},
	doi = {10.1016/j.jacc.2020.01.013},
	author = {Pirruccello, James P and Bick, Alexander and Chaffin, Mark and Aragam, Krishna G and Choi, Seung Hoan and Lubitz, Steven A and Ho, Carolyn Y and Ng, Kenney and Philippakis, Anthony and Ellinor, Patrick T and Kathiresan, Sekar and Khera, Amit V}
}
@article {43,
	title = {Genome-wide polygenic scores for common diseases identify individuals with risk equivalent to monogenic mutations.},
	journal = {Nat Genet},
	volume = {50},
	year = {2018},
	month = {2018 Sep},
	pages = {1219-1224},
	abstract = {<p>A key public health need is to identify individuals at high risk for a given disease to enable enhanced screening or preventive therapies. Because most common diseases have a genetic component, one important approach is to stratify individuals based on inherited DNA variation. Proposed clinical applications have largely focused on finding carriers of rare monogenic mutations at several-fold increased risk. Although most disease risk is polygenic in nature, it has not yet been possible to use polygenic predictors to identify individuals at risk comparable to monogenic mutations. Here, we develop and validate genome-wide polygenic scores for five common diseases. The approach identifies 8.0, 6.1, 3.5, 3.2, and 1.5\% of the population at greater than threefold increased risk for coronary artery disease, atrial fibrillation, type 2 diabetes, inflammatory bowel disease, and breast cancer, respectively. For coronary artery disease, this prevalence is 20-fold higher than the carrier frequency of rare monogenic mutations conferring comparable risk. We propose that it is time to contemplate the inclusion of polygenic risk prediction in clinical care, and discuss relevant issues.</p>},
	issn = {1546-1718},
	doi = {10.1038/s41588-018-0183-z},
	author = {Khera, Amit V and Chaffin, Mark and Aragam, Krishna G and Haas, Mary E and Roselli, Carolina and Choi, Seung Hoan and Natarajan, Pradeep and Lander, Eric S and Lubitz, Steven A and Ellinor, Patrick T and Kathiresan, Sekar}
}
