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Paper

Iyer, Shruti V, Goodwin, Sara, McCombie, William Richard (November 2024) Leveraging the power of long reads for targeted sequencing. Genome Research, 34 (11). pp. 1701-1718. ISSN 1088-9051

Koren, Sergey, Bao, Zhigui, Guarracino, Andrea, Ou, Shujun, Goodwin, Sara, Jenike, Katharine M, Lucas, Julian, McNulty, Brandy, Park, Jimin, Rautiainen, Mikko, Rhie, Arang, Roelofs, Dick, Schneiders, Harrie, Vrijenhoek, Ilse, Nijbroek, Koen, Nordesjo, Olle, Nurk, Sergey, Vella, Mike, Lawrence, Katherine R, Ware, Doreen, Schatz, Michael C, Garrison, Erik, Huang, Sanwen, McCombie, William Richard, Miga, Karen H, Wittenberg, Alexander HJ, Phillippy, Adam M (November 2024) Gapless assembly of complete human and plant chromosomes using only nanopore sequencing. Genome Research. ISSN 1088-9051 (Public Dataset)

Gustafson, Jonas A, Gibson, Sophia B, Damaraju, Nikhita, Zalusky, Miranda Pg, Hoekzema, Kendra, Twesigomwe, David, Yang, Lei, Snead, Anthony A, Richmond, Phillip A, De Coster, Wouter, Olson, Nathan D, Guarracino, Andrea, Li, Qiuhui, Miller, Angela L, Goffena, Joy, Anderson, Zachery B, Storz, Sophie Hr, Ward, Sydney A, Sinha, Maisha, Gonzaga-Jauregui, Claudia, Clarke, Wayne E, Basile, Anna O, Corvelo, Andre, Reeves, Catherine E, Helland, Adrienne, Musunuri, Rajeeva Lochan, Revsine, Mahler, Patterson, Karynne E, Paschal, Cate, Zakarian, Christina, Goodwin, Sara, Jensen, Tanner D, Robb, Esther, 1000 Genomes ONT Sequencing Consortium, University of Washington Center for Rare Disease Research (UW-CR, Genomics Research to Elucidate the Genetics of Rare Diseases (GR, McCombie, W Richard, Sedlazeck, Fritz J, Zook, Justin M, Montgomery, Stephen B, Garrison, Erik, Kolmogorov, Mikhail, Schatz, Michael C, McLaughlin, Richard N, Dashnow, Harriet, Zody, Michael C, Loose, Matthew, Jain, Miten, Eichler, Evan E, Miller, Danny E (October 2024) High-coverage nanopore sequencing of samples from the 1000 Genomes Project to build a comprehensive catalog of human genetic variation. Genome Research. gr.279273.124-gr.279273.124. ISSN 1088-9051 (Public Dataset)

Kramer, Melissa, Goodwin, Sara, Wappel, Robert, Borio, Matilde, Offit, Kenneth, Feldman, Darren R, Stadler, Zsofia K, McCombie, W Richard (July 2024) Exploring the genetic and epigenetic underpinnings of early-onset cancers: Variant prioritization for long read whole genome sequencing from family cancer pedigrees. bioRxiv. (Submitted)

Aguzzoli Heberle, Bernardo, Brandon, J Anthony, Page, Madeline L, Nations, Kayla A, Dikobe, Ketsile I, White, Brendan J, Gordon, Lacey A, Fox, Grant A, Wadsworth, Mark E, Doyle, Patricia H, Williams, Brittney A, Fox, Edward J, Shantaraman, Anantharaman, Ryten, Mina, Goodwin, Sara, Ghiban, Elena, Wappel, Robert, Mavruk-Eskipehlivan, Senem, Miller, Justin B, Seyfried, Nicholas T, Nelson, Peter T, Fryer, John D, Ebbert, Mark TW (May 2024) Mapping medically relevant RNA isoform diversity in the aged human frontal cortex with deep long-read RNA-seq. Nature Biotechnology. ISSN 1087-0156 (Public Dataset)

Koren, Sergey, Bao, Zhigui, Guarracino, Andrea, Ou, Shujun, Goodwin, Sara, Jenike, Katharine M, Lucas, Julian, McNulty, Brandy, Park, Jimin, Rautianinen, Mikko, Rhie, Arang, Roelofs, Dick, Schneiders, Harrie, Vrijenhoek, Ilse, Nijbroek, Koen, Ware, Doreen, Schatz, Michael C, Garrison, Erik, Huang, Sanwen, McCombie, William Richard, Miga, Karen H, Wittenberg, Alexander HJ, Phillippy, Adam M (March 2024) Gapless assembly of complete human and plant chromosomes using only nanopore sequencing. bioRxiv. (Submitted)

Gustafson, Jonas A, Gibson, Sophia B, Damaraju, Nikhita, Zalusky, Miranda Pg, Hoekzema, Kendra, Twesigomwe, David, Yang, Lei, Snead, Anthony A, Richmond, Phillip A, De Coster, Wouter, Olson, Nathan D, Guarracino, Andrea, Li, Qiuhui, Miller, Angela L, Goffena, Joy, Anderson, Zachery, Storz, Sophie Hr, Ward, Sydney A, Sinha, Maisha, Gonzaga-Jauregui, Claudia, Clarke, Wayne E, Basile, Anna O, Corvelo, Andre, Reeves, Catherine E, Helland, Adrienne, Musunuri, Rajeeva Lochan, Revsine, Mahler, Patterson, Karynne E, Paschal, Cate, Zakarian, Christina, Goodwin, Sara, Jensen, Tanner D, Robb, Esther, 1000 Genomes ONT Sequencing Consortium, University of Washington Center for Rare Disease Research (UW-CR, Genomics Research to Elucidate the Genetics of Rare Diseases (GR, McCombie, W Richard, Sedlazeck, Fritz J, Zook, Justin M, Montgomery, Stephen B, Garrison, Erik, Kolmogorov, Mikhail, Schatz, Michael C, McLaughlin, Richard N, Dashnow, Harriet, Zody, Michael C, Loose, Matthew, Jain, Miten, Eichler, Evan E, Miller, Danny E (March 2024) Nanopore sequencing of 1000 Genomes Project samples to build a comprehensive catalog of human genetic variation. medRxiv. (Public Dataset) (Submitted)

Badger, Jonathan H, Giordano, Rosanna, Zimin, Aleksey, Wappel, Robert, Eskipehlivan, Senem M, Muller, Stephanie, Donthu, Ravikiran, Soto-Adames, Felipe, Vieira, Paulo, Zasada, Inga, Goodwin, Sara (February 2024) Direct sequencing of insect symbionts via nanopore adaptive sampling. Current Opinion in Insect Science, 61. p. 101135. ISSN 2214-5745

Heberle, Bernardo Aguzzoli, Brandon, J Anthony, Page, Madeline L, Nations, Kayla A, Dikobe, Ketsile I, White, Brendan J, Gordon, Lacey A, Fox, Grant A, Wadsworth, Mark E, Doyle, Patricia H, Williams, Brittney A, Fox, Edward J, Shantaraman, Anantharaman, Ryten, Mina, Goodwin, Sara, Ghiban, Elena, Wappel, Robert, Mavruk-Eskipehlivan, Senem, Miller, Justin B, Seyfried, Nicholas T, Nelson, Peter T, Fryer, John D, Ebbert, Mark TW (December 2023) Using deep long-read RNAseq in Alzheimer's disease brain to assess medical relevance of RNA isoform diversity. bioRxiv. (Submitted)

Hegelmeyer, Nuri K, Parkin, Lia A, Previti, Mary L, Andrade, Joshua, Utama, Raditya, Sejour, Richard J, Gardin, Justin, Muller, Stephanie, Ketchum, Steven, Yurovsky, Alisa, Futcher, Bruce, Goodwin, Sara, Ueberheide, Beatrix, Seeliger, Jessica C (October 2023) Gene recoding by synonymous mutations creates promiscuous intragenic transcription initiation in mycobacteria. mBio. e0084123. ISSN 2150-7511

Scheben, Armin, Mendivil Ramos, Olivia, Kramer, Melissa, Goodwin, Sara, Oppenheim, Sara, Becker, Daniel J, Schatz, Michael C, Simmons, Nancy B, Siepel, Adam, McCombie, W Richard (September 2023) Long-Read Sequencing Reveals Rapid Evolution of Immunity- and Cancer-Related Genes in Bats. Genome Biology and Evolution, 15 (9). ISSN 1759-6653 (Public Dataset)

Stevenson, Dennis Wm, Ramakrishnan, Srividya, Alves, Cristiane de Santis, Coelho, Laís Araujo, Kramer, Melissa, Goodwin, Sara, Ramos, Olivia Mendevil, Eshel, Gil, Sondervan, Veronica M, Frangos, Samantha, Zumajo-Cardona, Cecilia, Jenike, Katherine, Ou, Shujun, Wang, Xiaojin, Lee, Yin Peng, Loke, Stella, Rossetto, Maurizio, McPherson, Hannah, Nigris, Sebastiano, Moschin, Silvia, Little, Damon P, Katari, Manpreet S, Varala, Kranthi, Kolokotronis, Sergios-Orestis, Ambrose, Barbara, Croft, Larry J, Coruzzi, Gloria M, Schatz, Michael, McCombie, W Richard, Martienssen, Robert A (August 2023) The genome of the Wollemi pine, a critically endangered "living fossil" unchanged since the Cretaceous, reveals extensive ancient transposon activity. bioRxiv. (Public Dataset) (Submitted)

Hegelmeyer, Nuri K, Previti, Mary L, Andrade, Joshua, Utama, Raditya, Sejour, Richard J, Gardin, Justin, Muller, Stephanie, Ketchum, Steven, Yurovsky, Alisa, Futcher, Bruce, Goodwin, Sara, Ueberheide, Beatrix, Seeliger, Jessica C (March 2023) Gene recoding by synonymous mutations creates promiscuous intragenic transcription initiation in mycobacteria. bioRxiv. (Submitted)

Akagi, Keiko, Symer, David E, Mahmoud, Medhat, Jiang, Bo, Goodwin, Sara, Wangsa, Darawalee, Li, Zhengke, Xiao, Weihong, Dunn, Joe Dan, Ried, Thomas, Coombes, Kevin R, Sedlazeck, Fritz J, Gillison, Maura L (January 2023) Intratumoral heterogeneity and clonal evolution induced by HPV integration. Cancer Discovery. ISSN 2159-8274 (Public Dataset)

Gladman, Nicholas, Goodwin, Sara, Chougule, Kapeel, Richard McCombie, William, Ware, Doreen (January 2023) Era of gapless plant genomes: innovations in sequencing and mapping technologies revolutionize genomics and breeding. Current Opinion in Biotechnology, 79. p. 102886. ISSN 0958-1669

Anderson, Erik W, Jin, Ying, Shih, Andrew, Arazi, Arnon, Goodwin, Sara, Roeser, Julien, Furie, Richard A, Aranow, Cynthia, Volpe, Bruce, Diamond, Betty, Mackay, Meggan (November 2022) Associations between circulating interferon and kynurenine/tryptophan pathway metabolites: support for a novel potential mechanism for cognitive dysfunction in SLE. Lupus Science & Medicine, 9 (1). e000808. ISSN 2053-8790

Noyes, Michelle D, Harvey, William T, Porubsky, David, Sulovari, Arvis, Li, Ruiyang, Rose, Nicholas R, Audano, Peter A, Munson, Katherine M, Lewis, Alexandra P, Hoekzema, Kendra, Mantere, Tuomo, Graves-Lindsay, Tina A, Sanders, Ashley D, Goodwin, Sara, Kramer, Melissa, Mokrab, Younes, Zody, Michael C, Hoischen, Alexander, Korbel, Jan O, McCombie, W Richard, Eichler, Evan E (March 2022) Familial long-read sequencing increases yield of de novo mutations. American Journal of Human Genetics. ISSN 0002-9297

Brennan, Christina M, Nadella, Sandeep, Zhao, Xiang, Dima, Richard J, Jordan-Martin, Nicole, Demestichas, Breanna R, Kleeman, Sam O, Ferrer, Miriam, von Gablenz, Eva Carlotta, Mourikis, Nicholas, Rubin, Michael E, Adnani, Harsha, Lee, Hassal, Ha, Taehoon, Prum, Soma, Schleicher, Cheryl B, Fox, Sharon S, Ryan, Michael G, Pili, Christina, Goldberg, Gary, Crawford, James M, Goodwin, Sara, Zhang, Xiaoyue, Preall, Jonathan B, Costa, Ana SH, Conigliaro, Joseph, Masci, Joseph R, Yang, Jie, Tuveson, David A, Tracey, Kevin J, Janowitz, Tobias (February 2022) Oral famotidine versus placebo in non-hospitalised patients with COVID-19: a randomised, double-blind, data-intense, phase 2 clinical trial. Gut. ISSN 0017-5749

Baslan, Timour, Kovaka, Sam, Sedlazeck, Fritz J, Zhang, Yanming, Wappel, Robert, Tian, Sha, Lowe, Scott W, Goodwin, Sara, Schatz, Michael C (September 2021) High resolution copy number inference in cancer using short-molecule nanopore sequencing. Nucleic Acids Research. ISSN 0305-1048

Wei, Yiliang, Huang, Yu-Han, Skopelitis, Damianos S, Iyer, Shruti V, Costa, Ana SH, Yang, Zhaolin, Kramer, Melissa, Adelman, Emmalee R, Klingbeil, Olaf, Demerdash, Osama E, Polyanskaya, Sofya A, Chang, Kenneth, Goodwin, Sara, Hodges, Emily, McCombie, W Richard, Figueroa, Maria E, Vakoc, Christopher R (September 2021) SLC5A3-dependent myo-inositol auxotrophy in acute myeloid leukemia. Cancer Discovery. candisc.1849.2020-candisc.1849.2020. ISSN 2159-8274

Yang, Zhaolin, Wu, Xiaoli S, Wei, Yiliang, Polyanskaya, Sofya A, Iyer, Shruti V, Jung, Moonjung, Lach, Francis P, Adelman, Emmalee R, Klingbeil, Olaf, Milazzo, Joseph P, Kramer, Melissa, Demerdash, Osama E, Chang, Kenneth, Goodwin, Sara, Hodges, Emily, McCombie, W Richard, Figueroa, Maria E, Smogorzewska, Agata, Vakoc, Christopher R (April 2021) Transcriptional silencing of ALDH2 confers a dependency on Fanconi anemia proteins in acute myeloid leukemia. Cancer Discovery. ISSN 2159-8274

Scheben, Armin, Ramos, Olivia Mendivil, Kramer, Melissa, Goodwin, Sara, Oppenheim, Sara, Becker, Daniel, Schatz, Michael, Simmons, Nancy, Siepel, Adam, McCombie, Richard (September 2020) Unraveling molecular mechanisms of immunity and cancer-resistance using the genomes of the Neotropical bats Artibeus jamaicensis and Pteronotus mesoamericanus. BioRxiv. (Unpublished)

Aganezov, S., Goodwin, S., Sherman, R. M., Sedlazeck, F. J., Arun, G., Bhatia, S., Lee, I., Kirsche, M., Wappel, R., Kramer, M., Kostroff, K., Spector, D. L., Timp, W., McCombie, W. R., Schatz, M. C. (September 2020) Comprehensive analysis of structural variants in breast cancer genomes using single-molecule sequencing. Genome Res, 30 (9). pp. 1258-1273. ISSN 1088-9051 (Print)1088-9051

Alonge, M., Wang, X., Benoit, M., Soyk, S., Pereira, L., Zhang, L., Suresh, H., Ramakrishnan, S., Maumus, F., Ciren, D., Levy, Y., Harel, T. H., Shalev-Schlosser, G., Amsellem, Z., Razifard, H., Caicedo, A. L., Tieman, D. M., Klee, H., Kirsche, M., Aganezov, S., Ranallo-Benavidez, T. R., Lemmon, Z. H., Kim, J., Robitaille, G., Kramer, M., Goodwin, S., McCombie, W. R., Hutton, S., Van Eck, J., Gillis, J., Eshed, Y., Sedlazeck, F. J., van der Knaap, E., Schatz, M. C., Lippman, Z. B. (July 2020) Major Impacts of Widespread Structural Variation on Gene Expression and Crop Improvement in Tomato. Cell, 182 (1). 145-161.e23. ISSN 0092-8674 (Print)0092-8674

Wang, L., Lu, Z., Delabastide, M., Van Buren, P., Wang, X., Ghiban, C., Regulski, M., Drenkow, J., Xu, X., Ortiz-Ramirez, C., Marco, C.F., Goodwin, S., Dobin, A., Birnbaum, K. D., Jackson, D. P., Martienssen, R. A., McCombie, W. R., Micklos, D. A., Schatz, M. C., Ware, D. H., Gingeras, T. R. (March 2020) Management, Analyses, and Distribution of the MaizeCODE Data on the Cloud. Frontiers in Plant Science, 11 (289). ISSN 1664-462X (Public Dataset)

Oppenheim, S., Cao, X., Rueppel, O., Krongdang, S., Phokasem, P., DeSalle, R., Goodwin, S., Xing, J., Chantawannakul, P., Rosenfeld, J. A. (January 2020) Whole Genome Sequencing and Assembly of the Asian Honey Bee Apis dorsata. Genome Biol Evol, 12 (1). pp. 3677-3683. ISSN 1759-6653 (Public Dataset)

Goodwin, S., McCombie, W. R. (December 2019) Sequencing Complex Genomes with PromethION Technology in a Core Setting. J Biomol Tech, 30 (Suppl). S36-s37. ISSN 1524-0215

Wang, Liya, Lu, Zhenyuan, delaBastide, Melissa, Van Buren, Peter, Wang, Xiaofei, Ghiban, Cornel, Regulski, Michael, Drenkow, Jorg, Xu, Xiaosa, Ortiz-Ramirez, Carlos, Fernandez-Marco, Cristina, Goodwin, Sara, Dobin, Alexander, Birnbaum, Kenneth, Jackson, David, Martienssen, Robert, McCombie, William, Micklos, David, Schatz, Michael, Ware, Doreen, Gingeras, Thomas (November 2019) Management, Analyses, and Distribution of the MaizeCODE Data on the Cloud. BioRxiv. (Unpublished)

Alonge, M., Soyk, S., Ramakrishnan, S., Wang, X., Goodwin, S., Sedlazeck, F. J., Lippman, Z. B., Schatz, M. C. (October 2019) RaGOO: fast and accurate reference-guided scaffolding of draft genomes. Genome Biol, 20 (1). p. 224. ISSN 1474-7596 (Public Dataset)

Iyer, S., Goodwin, S., McCombie, W. R. (July 2019) Adapting long read sequencing technologies for targeted and single cell applications. Cancer Research, 79 (13S). p. 5136. ISSN 0008-5472

Nattestad, M., Goodwin, S., Ng, K., Baslan, T., Sedlazeck, F., Rescheneder, P., Garvin, T., Fang, H., Gurtowski, J., Hutton, E., Tseng, E., Chin, J., Beck, T., Sundaravadanam, Y., Kramer, M., Antoniou, E., McPherson, J., Hicks, J., McCombie, W. R., Schatz, M. C. (August 2018) Complex rearrangements and oncogene amplifications revealed by long-read DNA and RNA sequencing of a breast cancer cell line. Genome Res, 28 (8). pp. 1126-1135. ISSN 1088-9051

Goodwin, S., Wappel, R., McCombie, W. R. (July 2017) 1D Genome Sequencing on the Oxford Nanopore MinION. Curr Protoc Hum Genet, 94. 18.11.1-18.11.14. ISSN 1934-8258

Goodwin, S., McPherson, J. D., McCombie, W. R. (May 2016) Coming of age: ten years of next-generation sequencing technologies. Nat Rev Genet, 17 (6). pp. 333-51. ISSN 1471-0064 (Electronic)1471-0056 (Linking)

Goodwin, S., Gurtowski, J., Ethe-Sayers, S., Deshpande, P., Schatz, M. C., McCombie, W. R. (November 2015) Oxford Nanopore sequencing, hybrid error correction, and de novo assembly of a eukaryotic genome. Genome Res, 25 (11). pp. 1750-1756. ISSN 1088-9051

Ip, C. L., Loose, M., Tyson, J. R., de Cesare, M., Brown, B. L., Jain, M., Leggett, R. M., Eccles, D. A., Zalunin, V., Urban, J. M., Piazza, P., Bowden, R. J., Paten, B., Mwaigwisya, S., Batty, E. M., Simpson, J. T., Snutch, T. P., Birney, E., Buck, D., Goodwin, S., Jansen, H. J., O'Grady, J., Olsen, H. E. (October 2015) MinION Analysis and Reference Consortium: Phase 1 data release and analysis. F1000Res, 4. p. 1075. ISSN 2046-1402 (Electronic)2046-1402 (Linking)

Loman, N., Goodwin, S., Jansen, H., Loose, M. (October 2015) A disruptive sequencer meets disruptive publishing. F1000Res, 4. p. 1074. ISSN 2046-1402 (Electronic)2046-1402 (Linking)

Goodwin, S., Gade, A. M., Byrom, M., Herrera, B., Spears, C., Anslyn, E. V., Ellington, A. D. (March 2015) Next-Generation Sequencing as Input for Chemometrics in Differential Sensing Routines. Angew Chem Int Ed Engl, 54 (21). pp. 6339-6342. ISSN 1433-7851

Conference or Workshop Item

Iyer, Shruti V, Kramer, Melissa, Goodwin, Sara, McCombie, W Richard (2022) Cas9 based targeted nanopore sequencing helps identify structural variants in breast cancer genes. In: Annual Meeting of the American-Association-for-Cancer-Research (AACR), APR 08-13, 2022, New Orleans, LA.

Iyer, Shruti V, Kramer, Melissa, Goodwin, Sara, McCombie, W Richard (July 2021) Understanding genetic variation in cancer using nanopore targeted sequencing. In: AACR Annual Meeting 2021.

Iyer, Shruti V, Goodwin, Sara, Kramer, Melissa, McCombie, W Richard (August 2020) Understanding genetic variation in cancer using targeted nanopore long read sequencing. In: AACR Annual Meeting.

Rosenfeld, Jeffrey, Goodwin, Sara, Ganesan, Shridar (2017) The use of long-read sequencing to determine the structure of the Her2 amplicon in breast cancer. In: Proceedings of the American Association for Cancer Research Annual Meeting 2017, 2017 Apr 1-5, Washington, DC..

Nattestad, Maria, Ng, Karen, Goodwin, Sara, Baslan, Timour, Sedlazeck, Fritz, Gurtowski, James, Hutton, Elizabeth, Sundaravadanam, Yogi, Garvin, Tyler, Alford, Marley, Tseng, Elizabeth, Rescheneder, Philipp, Chin, Jason, Beck, Timothy, Kramer, Melissa, McPherson, John, Hicks, James, Schatz, Michael C, McCombie, William R (2016) Comprehensive genome and transcriptome structural analysis of a breast cancer cell line using single molecule sequencing. In: Proceedings of the 107th Annual Meeting of the American Association for Cancer Research, 2016 Apr 16-20, New Orleans, LA.