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Zhang, S, Samocha, KE, Rivas, MA, Karczewski, KJ, Daly, E, Schmandt, B, Neale, BM, MacArthur, DG, Daly, MJ.
Base-specific mutational intolerance near splice-sites clarifies role of non-essential splice nucleotides.
2024
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Zou, J, Valiant, G, Valiant, P, Karczewski, K, Chan, SO, Samocha, K, Lek, M, Consortium, EA, Sunyaev, S, Daly, M, et al.
Quantifying the unobserved protein-coding variants in human populations provides a roadmap for large-scale sequencing projects.
2024
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Cassa, CA, Weghorn, D, Balick, DJ, Jordan, DM, Nusinow, D, Samocha, KE, Luria, AO, MacArthur, DG, Daly, MJ, Beier, DR, et al.
Estimating the Selective Effect of Heterozygous Protein Truncating Variants from Human Exome Data.
2024
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Barrett, JC, Buxbaum, JD, Cutler, DJ, Daly, MJ, Devlin, B, Gratten, J, Hurles, ME, Kosmicki, JA, Lander, ES, MacArthur, DG, et al.
New mutations, old statistical challenges.
2024
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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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