Genetic Variation, Comparative Genomics, and the Diagnosis of Disease von Eichler, Evan E

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Phenotypic variability and genetic susceptibility to genomic disorders von Girirajan, Santhosh, Eichler, Evan E.

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Nonhybrid, finished microbial genome assemblies from long-read SMRT sequencing data von Chin, Chen-Shan, Alexander, David H, Marks, Patrick, Klammer, Aaron A, Drake, James, Heiner, Cheryl, Clum, Alicia, Copeland, Alex, Huddleston, John, Eichler, Evan E, Turner, Stephen W, Korlach, Jonas

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Limitations of next-generation genome sequence assembly von Eichler, Evan E, Alkan, Can, Sajjadian, Saba

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Utility of long-read sequencing for All of Us von Mahmoud, M., Huang, Y., Garimella, K., Audano, P. A., Wan, W., Prasad, N., Handsaker, R. E., Hall, S., Pionzio, A., Schatz, M. C., Talkowski, M. E., Eichler, E. E., Levy, S. E., Sedlazeck, F. J.

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Evolution of Human-Specific Neural SRGAP2 Genes by Incomplete Segmental Duplication von Dennis, Megan Y., Nuttle, Xander, Sudmant, Peter H., Antonacci, Francesca, Graves, Tina A., Nefedov, Mikhail, Rosenfeld, Jill A., Sajjadian, Saba, Malig, Maika, Kotkiewicz, Holland, Curry, Cynthia J., Shafer, Susan, Shaffer, Lisa G., de Jong, Pieter J., Wilson, Richard K., Eichler, Evan E.

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Localization of oskar mRNA by agglomeration in ribonucleoprotein granules von Eichler, Catherine E, Li, Hui, Grunberg, Michelle E, Gavis, Elizabeth R

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HiCanu: accurate assembly of segmental duplications, satellites, and allelic variants from high-fidelity long reads von Nurk, Sergey, Walenz, Brian P., Rhie, Arang, Vollger, Mitchell R., Logsdon, Glennis A., Grothe, Robert, Miga, Karen H., Eichler, Evan E., Phillippy, Adam M., Koren, Sergey

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Properties and rates of germline mutations in humans von Campbell, Catarina D, Eichler, Evan E

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The discovery of integrated gene networks for autism and related disorders von Hormozdiari, Fereydoun, Penn, Osnat, Borenstein, Elhanan, Eichler, Evan E

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Genetic variation and the de novo assembly of human genomes von Chaisson, Mark J. P., Wilson, Richard K., Eichler, Evan E.

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Prioritization of neurodevelopmental disease genes by discovery of new mutations von Hoischen, Alexander, Krumm, Niklas, Eichler, Evan E

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The Role of De Novo Noncoding Regulatory Mutations in Neurodevelopmental Disorders von Turner, Tychele N., Eichler, Evan E.

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An Incomplete Understanding of Human Genetic Variation von Huddleston, John, Eichler, Evan E

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Disruptive de novo mutations of DYRK1A lead to a syndromic form of autism and ID von van Bon, B W M, Coe, B P, Bernier, R, Green, C, Gerdts, J, Witherspoon, K, Kleefstra, T, Willemsen, M H, Kumar, R, Bosco, P, Fichera, M, Li, D, Amaral, D, Cristofoli, F, Peeters, H, Haan, E, Romano, C, Mefford, H C, Scheffer, I, Gecz, J, de Vries, B B A, Eichler, E E

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A Genotype-First Approach to Defining the Subtypes of a Complex Disease von Stessman, Holly A., Bernier, Raphael, Eichler, Evan E.

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Characterizing the Major Structural Variant Alleles of the Human Genome von Audano, Peter A., Sulovari, Arvis, Graves-Lindsay, Tina A., Cantsilieris, Stuart, Sorensen, Melanie, Welch, AnneMarie E., Dougherty, Max L., Nelson, Bradley J., Shah, Ankeeta, Dutcher, Susan K., Warren, Wesley C., Magrini, Vincent, McGrath, Sean D., Li, Yang I., Wilson, Richard K., Eichler, Evan E.

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Genomic Patterns of De Novo Mutation in Simplex Autism von Turner, Tychele N., Coe, Bradley P., Dickel, Diane E., Hoekzema, Kendra, Nelson, Bradley J., Zody, Michael C., Kronenberg, Zev N., Hormozdiari, Fereydoun, Raja, Archana, Pennacchio, Len A., Darnell, Robert B., Eichler, Evan E.

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Epigenetic patterns in a complete human genome von Gershman, Ariel, Sauria, Michael E G, Guitart, Xavi, Vollger, Mitchell R, Hook, Paul W, Hoyt, Savannah J, Jain, Miten, Shumate, Alaina, Razaghi, Roham, Koren, Sergey, Altemose, Nicolas, Caldas, Gina V, Logsdon, Glennis A, Rhie, Arang, Eichler, Evan E, Schatz, Michael C, O'Neill, Rachel J, Phillippy, Adam M, Miga, Karen H, Timp, Winston

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Excess of rare, inherited truncating mutations in autism von Krumm, Niklas, Turner, Tychele N, Baker, Carl, Vives, Laura, Mohajeri, Kiana, Witherspoon, Kali, Raja, Archana, Coe, Bradley P, Stessman, Holly A, He, Zong-Xiao, Leal, Suzanne M, Bernier, Raphael, Eichler, Evan E

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