bioRxivGenetics
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 LekiD, Exome Aggregation Consortium, Shamil Sunyaev, Mark Daly, Daniel MacArthur
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 ...
- organism: human
- assay: whole-exome sequencing
- research focus: variant calling
- approach: statistical model
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