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bioRxiv · 10.1101/030841

Quantifying the unobserved protein-coding variants in human populations provides a roadmap for large-scale sequencing projects

James Zou·Gregory Valiant·Paul Valiant·Konrad Karczewski·Siu On Chan·Kaitlin Samocha·Monkol Lek·Exome Aggregation Consortium·Shamil Sunyaev·Mark Daly·Daniel MacArthur
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Abstract

Introduction Introduction Results Discussion 1. Preliminaries 2.1 Performance Guarantees 2. The UnseenEst Algorithm 3. Datasets 4. Validation experiments 5. Related works 6.1 Faithful samples 6.2 Chebyshev construction 6.3 Proof of Proposition... 6. Proofs of the... References References Recent efforts aggregating the genomes and exomes of tens of thousands of individuals have provided unprecedented insights into the landscape of rare human genetic variation1,2 and generated critical resources for clinical and population genetics. The recently announced U.S. Precision Med ...

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James Zou, Gregory Valiant, Paul Valiant, Konrad Karczewski, Siu On Chan, Kaitlin Samocha, Monkol Lek, Exome Aggregation Consortium, Shamil Sunyaev, Mark Daly, Daniel MacArthur. 2015-11-06. Quantifying the unobserved protein-coding variants in human populations provides a roadmap for large-scale sequencing projects. https://doi.org/10.1101/030841

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