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Study design and the sampling of deleterious rare variants in biobank-scale datasets.

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Title: Study design and the sampling of deleterious rare variants in biobank-scale datasets.
Authors: Steiner MC; Department of Human Genetics, University of Chicago, Chicago, IL 60637., Rice DP; Media Laboratory, Massachusetts Institute of Technology, Cambridge, MA 02139.; SecureBio, Cambridge, MA 02142., Biddanda A; Department of Biology, Johns Hopkins University, Baltimore, MD 21218., Ianni-Ravn MK; Department of Human Genetics, University of Chicago, Chicago, IL 60637., Porras C; Department of Genetics and Genomic Sciences, Icahn School of Medicine, New York, NY 10029., Novembre J; Department of Human Genetics, University of Chicago, Chicago, IL 60637.; Department of Ecology and Evolution, University of Chicago, Chicago, IL 60637.
Source: Proceedings of the National Academy of Sciences of the United States of America [Proc Natl Acad Sci U S A] 2025 Jun 10; Vol. 122 (23), pp. e2425196122. Date of Electronic Publication: 2025 Jun 03.
Publication Type: Journal Article
Journal Info: Publisher: National Academy of Sciences Country of Publication: United States NLM ID: 7505876 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1091-6490 (Electronic) Linking ISSN: 00278424 NLM ISO Abbreviation: Proc Natl Acad Sci U S A Subsets: MEDLINE
Database: MEDLINE Ultimate
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