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Certificates of confidentiality: privileging research data.
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Genomic data in the All of Us Research Program.
Nature. 2024 Mar;627(8003):340-346. doi: 10.1038/s41586-023-06957-x. Epub 2024 Feb 19.
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A genomic mutational constraint map using variation in 76,156 human genomes.
Nature. 2024 Jan;625(7993):92-100. doi: 10.1038/s41586-023-06045-0. Epub 2023 Dec 6.
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Beyond the exome: What's next in diagnostic testing for Mendelian conditions.
Am J Hum Genet. 2023 Aug 3;110(8):1229-1248. doi: 10.1016/j.ajhg.2023.06.009.
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Increased diagnostic yield from negative whole genome-slice panels using automated reanalysis.
Clin Genet. 2023 Sep;104(3):377-383. doi: 10.1111/cge.14360. Epub 2023 May 17.
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A draft human pangenome reference.
Nature. 2023 May;617(7960):312-324. doi: 10.1038/s41586-023-05896-x. Epub 2023 May 10.
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The Human Pangenome Project: a global resource to map genomic diversity.
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Most complete human genome yet is revealed.
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The complete sequence of a human genome.
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The Data Use Ontology to streamline responsible access to human biomedical datasets.
Cell Genom. 2021 Nov 10;1(2):None. doi: 10.1016/j.xgen.2021.100028.

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