Novel insights into breast cancer copy number genetic heterogeneity revealed by single-cell genome sequencing

Autor: James W. Hicks, Timour Baslan, Nevenka Dimitrova, Junyan Song, Assaf Gordon, Ronak Shah, Jie Wu, Michael Riggs, Kalyani Chadalavada, Vinay Varadan, Hilary Cox, Linda Rodgers, Lyndsay Harris, Sean D'Italia, Rodrigo Gularte-Mérida, Gouri Nanjangud, Anthony Leotta, Michael Wigler, Alexander Krasnitz, Frank Ambrosio, Yong Mao, Christina Curtis, Jude Kendall, Konstantin Volyanskyy, Katherine McNamara

Publikováno v: eLife
eLife, Vol 9 (2020)

Copy number alterations (CNAs) play an important role in molding the genomes of breast cancers and have been shown to be clinically useful for prognostic and therapeutic purposes. However, our knowledge of intra-tumoral genetic heterogeneity of this

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::3ffc1843a9be5623dc62739ac3f91fd1
https://doi.org/10.7554/elife.51480

The contribution of de novo coding mutations to autism spectrum disorder

Autor: Stephen Sanders, Deborah A. Nickerson, Michael Ronemus, Luis E. Gonzalez, Michael F. Walker, Kali Witherspoon, Shan Dong, Niklas Krumm, Jeffrey D. Mandell, Catherine A.W. Sullivan, Laura Vives, Giuseppe Narzisi, Boris Yamrom, Brian J. O'Roak, A. Jeremy Willsey, Jude Kendall, Jay Shendure, Karynne E. Patterson, Ewa A. Grabowska, Jeanselle Dea, Ivan Iossifov, Michael Wigler, Inessa Hakker, Michael C. Schatz, Dan Levy, Ertugrul Dalkic, Zainulabedin Waqar, Bryan W. Paeper, Beicong Ma, Jennifer Troge, Kenny Ye, Matthew W. State, Anthony Leotta, Peter Andrews, Linda Rodgers, Zihua Wang, Yoon-ha Lee, Holly A.F. Stessman, Seungtai Yoon, Evan E. Eichler, Joshua D. Smith, Steven Marks, Michael T. Murtha, Julie Rosenbaum, Liping Wei, Shrikant Mane, W. Richard McCombie

Publikováno v: Nature. 515:216-221

Whole exome sequencing has proven to be a powerful tool for understanding the genetic architecture of human disease. Here we apply it to more than 2,500 simplex families, each having a child with an autistic spectrum disorder. By comparing affected t

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::8b4fb8edeee729b043d00cb95f963117
https://doi.org/10.1038/nature13908

De Novo Gene Disruptions in Children on the Autistic Spectrum

Autor: Anthony Leotta, Steven Marks, Ivan Iossifov, Lucinda Fulton, Kith Pradhan, Peter Andrews, Linda Rodgers, Michael Wigler, Beicong Ma, Richard W. McCombie, Jennifer Troge, Elena Ghiban, Ryan Demeter, Robert S. Fulton, Julie Rosenbaum, Asya Stepansky, Vincent Magrini, Yoon-ha Lee, Kenny Ye, Jennifer Parla, Richard K. Wilson, Robert B. Darnell, Boris Yamrom, Inessa Hakker, Jennifer C. Darnell, Michael Ronemus, Michael C. Schatz, Dan Levy, Elaine R. Mardis, Zihua Wang, Giuseppe Narzisi, Melissa Kramer, Jude Kendall, Mitchell A. Bekritsky, Ewa A. Grabowska

Publikováno v: Neuron. 74(2):285-299

SummaryExome sequencing of 343 families, each with a single child on the autism spectrum and at least one unaffected sibling, reveal de novo small indels and point substitutions, which come mostly from the paternal line in an age-dependent manner. We

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::436dac00dfb388b306cc1884918b76cf

Microduplications of 16p11.2 are associated with schizophrenia

Autor: Abhishek Bhandari, Patricia Roccanova, Virginia L. Willour, Shane McCarthy, Verena Krause, Ian D. Krantz, Clara Lajonchere, James S. Sutcliffe, Michael Conlon O'Donovan, Jeffrey A. Lieberman, D. Grozeva, James B. Potash, Markus M. Nöthen, Anil K. Malhotra, Layla Kassem, Olga Krastoshevsky, Jon McClellan, Elaine H. Zackai, Seungtai Yoon, Mary Claire King, Jo Steele, Vlad Kustanovich, Chad R. Haldeman-Englert, Michael Gill, Ellen Leibenluft, Jonathan Sebat, Michael John Owen, Sven Cichon, Nancy B. Spinner, Mary Kusenda, Jessica Wolff, Yoon-ha Lee, Ezra Susser, Vladimir Vacic, Nancy R. Mendell, Marcella Rietschel, Ravinesh A. Kumar, David Skuse, Nisha Chitkara, Thomas G. Schulze, Timothy J. Crow, Vladimir Makarov, Lilia M. Iakoucheva, Jaya Ganesh, B. Lakshmi, Lynn E. DeLisi, Jude Kendall, Tamim H. Shaikh, Kevin Pavon, Susan L. Christian, Kaija Puura, Sydney Gary, Anjené M. Addington, Nicholas John Craddock, Meredith Goodell, Terho Lehtimäki, T. Scott Stroup, Francis J. McMahon, Curtis K. Deutsch, George Kirov, Louise Gallagher, Patrick F. Sullivan, Tom Walsh, Diana O. Perkins, Pamela DeRosse, Justin Pearl, Paige Kaplan, Diane E. Dickel, Judith L. Rapoport, Anthony Leotta, Deborah L. Levy, Dheeraj Malhotra

Publikováno v: Nature genetics
McCarthy, SE; Makarov, V; Kirov, G; Addington, AM; McClellan, J; Yoon, S; et al.(2009). Microduplications of 16p11.2 are associated with schizophrenia. Nature Genetics, 41(11), 1223-1227. doi: 10.1038/ng.474. Lawrence Berkeley National Laboratory: Retrieved from: http://www.escholarship.org/uc/item/7s81v6xs

Recurrent microdeletions and microduplications of a 600 kb genomic region of chromosome 16p11.2 have been implicated in childhood-onset developmental disorders1-3. Here we report the strong association of 16p11.2 microduplications with schizophrenia

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::8e20046f72402a3d4699fde1fb53a5ee
https://doi.org/10.1038/ng.474

Optimizing sparse sequencing of single cells for highly multiplex copy number profiling

Autor: Hilary Cox, Jude Kendall, Michael Wigler, Sean D'Italia, Hannah Gilmore, Guoli Sun, Alexander Krasnitz, Lyndsay Harris, Brian Ward, Linda Rodgers, Anthony Leotta, Michael Riggs, Nevenka Dimitrova, Kristy Miskimen, James W. Hicks, Timour Baslan, Mao Yong, Michael Saborowski

Genome-wide analysis at the level of single cells has recently emerged as a powerful tool to dissect genome heterogeneity in cancer, neurobiology, and development. To be truly transformative, single-cell approaches must affordably accommodate large n

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::6f662223c08023907a2d96f80fa02963
https://europepmc.org/articles/PMC4417119/