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New mutations, old statistical challenges.
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Balasubramanian, S, Fu, Y, Pawashe, M, McGillivray, P, Jin, M, Liu, J, Karczewski, KJ, MacArthur, DG, Gerstein, M.
Determining the impact of putative loss-of-function variants in protein-coding genes.
2024
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Rivas, MA, Koskela, J, Huang, H, Stevens, C, Avila, BE, Haritunians, T, Neale, BM, Kurki, M, Ganna, A, Graham, D, et al.
Insights into the genetic epidemiology of Crohn’s and rare diseases in the Ashkenazi Jewish population.
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Landscape of X chromosome inactivation across human tissues.
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Kosmicki, JA, Samocha, KE, Howrigan, DP, Sanders, SJ, Slowikowski, K, Lek, M, Karczewski, KJ, Cutler, DJ, Devlin, B, Roeder, K, et al.
Refining the role of de novo protein truncating variants in neurodevelopmental disorders using population reference samples.
2024
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