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Published in Nature methods (01.06.2013)
Published in Nature methods (01.06.2013)
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HiCanu: accurate assembly of segmental duplications, satellites, and allelic variants from high-fidelity long reads
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Published in Genome research (01.09.2020)
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The discovery of integrated gene networks for autism and related disorders
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Published in Genome research (01.01.2015)
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Genetic variation and the de novo assembly of human genomes
Chaisson, Mark J. P., Wilson, Richard K., Eichler, Evan E.
Published in Nature reviews. Genetics (01.11.2015)
Published in Nature reviews. Genetics (01.11.2015)
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The Role of De Novo Noncoding Regulatory Mutations in Neurodevelopmental Disorders
Turner, Tychele N., Eichler, Evan E.
Published in Trends in neurosciences (Regular ed.) (01.02.2019)
Published in Trends in neurosciences (Regular ed.) (01.02.2019)
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Excess of rare, inherited truncating mutations in autism
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
Published in Nature genetics (01.06.2015)
Published in Nature genetics (01.06.2015)
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A Higher Mutational Burden in Females Supports a “Female Protective Model” in Neurodevelopmental Disorders
Jacquemont, Sébastien, Coe, Bradley P., Hersch, Micha, Duyzend, Michael H., Krumm, Niklas, Bergmann, Sven, Beckmann, Jacques S., Rosenfeld, Jill A., Eichler, Evan E.
Published in American journal of human genetics (06.03.2014)
Published in American journal of human genetics (06.03.2014)
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Characterizing the Major Structural Variant Alleles of the Human Genome
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.
Published in Cell (24.01.2019)
Published in Cell (24.01.2019)
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Evolution of Human-Specific Neural SRGAP2 Genes by Incomplete Segmental Duplication
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.
Published in Cell (11.05.2012)
Published in Cell (11.05.2012)
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Human copy number variation and complex genetic disease
Girirajan, Santhosh, Campbell, Catarina D, Eichler, Evan E
Published in Annual review of genetics (01.01.2011)
Published in Annual review of genetics (01.01.2011)
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Resolving the complexity of the human genome using single-molecule sequencing
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Published in Nature (London) (29.01.2015)
Published in Nature (London) (29.01.2015)
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Genomic Patterns of De Novo Mutation in Simplex Autism
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.
Published in Cell (19.10.2017)
Published in Cell (19.10.2017)
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Epigenetic patterns in a complete human genome
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
Published in Science (American Association for the Advancement of Science) (01.04.2022)
Published in Science (American Association for the Advancement of Science) (01.04.2022)
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Discovery and genotyping of structural variation from long-read haploid genome sequence data
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
Published in Genome research (01.05.2017)
Published in Genome research (01.05.2017)
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