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

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

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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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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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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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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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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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A Higher Mutational Burden in Females Supports a “Female Protective Model” in Neurodevelopmental Disorders von Jacquemont, Sébastien, Coe, Bradley P., Hersch, Micha, Duyzend, Michael H., Krumm, Niklas, Bergmann, Sven, Beckmann, Jacques S., Rosenfeld, Jill A., 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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Human Copy Number Variation and Complex Genetic Disease von Girirajan, Santhosh, Campbell, Catarina D, Eichler, Evan E

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Resolving the complexity of the human genome using single-molecule sequencing von Chaisson, Mark J. P., Huddleston, John, Dennis, Megan Y., Sudmant, Peter H., Malig, Maika, Hormozdiari, Fereydoun, Antonacci, Francesca, Surti, Urvashi, Sandstrom, Richard, Boitano, Matthew, Landolin, Jane M., Stamatoyannopoulos, John A., Hunkapiller, Michael W., Korlach, Jonas, 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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Discovery and genotyping of structural variation from long-read haploid genome sequence data von Huddleston, John, Chaisson, Mark J P, Steinberg, Karyn Meltz, Warren, Wes, Hoekzema, Kendra, Gordon, David, Graves-Lindsay, Tina A, Munson, Katherine M, Kronenberg, Zev N, Vives, Laura, Peluso, Paul, Boitano, Matthew, Chin, Chen-Shin, Korlach, Jonas, Wilson, Richard K, Eichler, Evan E

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