Whole Genome Sequencing

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Li, X., Chen, H., Selvaraj, M. S., Van Buren, E., Zhou, H., Wang, Y., Sun, R., McCaw, Z. R., Yu, Z., Jiang, M.-Z., DiCorpo, D., Gaynor, S. M., Dey, R., Arnett, D. K., Benjamin, E. J., Bis, J. C., Blangero, J., Boerwinkle, E., Bowden, D. W., … Lin, X. (2025). A statistical framework for multi-trait rare variant analysis in large-scale whole-genome sequencing studies. Nature Computational Science, 5(2), 125–143. https://doi.org/10.1038/s43588-024-00764-8
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Wojcik, M. H., Lemire, G., Berger, E., Zaki, M. S., Wissmann, M., Win, W., White, S. M., Weisburd, B., Wieczorek, D., Waddell, L. B., Verboon, J. M., VanNoy, G. E., Töpf, A., Tan, T. Y., Syrbe, S., Strehlow, V., Straub, V., Stenton, S. L., Snow, H., … O’Donnell-Luria, A. (2024). Genome Sequencing for Diagnosing Rare Diseases. New England Journal of Medicine, 390(21), 1985–1997. https://doi.org/10.1056/nejmoa2314761
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Wang, Y., Sarnowski, C., Lin, H., Pitsillides, A. N., Heard‐Costa, N. L., Choi, S. H., Wang, D., Bis, J. C., Blue, E. E., Boerwinkle, E., De Jager, P. L., Fornage, M., Wijsman, E. M., Seshadri, S., Dupuis, J., Peloso, G. M., & DeStefano, A. L. (2024). Key variants via the Alzheimer’s Disease Sequencing Project whole genome sequence data. Alzheimer’s & Dementia, 20(5), 3290–3304. Portico. https://doi.org/10.1002/alz.13705
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