An automated 13.5 hour system for scalable diagnosis and acute management guidance for genetic diseases

Autor: Mallory J. Owen, Sebastien Lefebvre, Christian Hansen, Chris M. Kunard, David P. Dimmock, Laurie D. Smith, Gunter Scharer, Rebecca Mardach, Mary J. Willis, Annette Feigenbaum, Anna-Kaisa Niemi, Yan Ding, Luca Van Der Kraan, Katarzyna Ellsworth, Lucia Guidugli, Bryan R. Lajoie, Timothy K. McPhail, Shyamal S. Mehtalia, Kevin K. Chau, Yong H. Kwon, Zhanyang Zhu, Sergey Batalov, Shimul Chowdhury, Seema Rego, James Perry, Mark Speziale, Mark Nespeca, Meredith S. Wright, Martin G. Reese, Francisco M. De La Vega, Joe Azure, Erwin Frise, Charlene Son Rigby, Sandy White, Charlotte A. Hobbs, Sheldon Gilmer, Gail Knight, Albert Oriol, Jerica Lenberg, Shareef A. Nahas, Kate Perofsky, Kyu Kim, Jeanne Carroll, Nicole G. Coufal, Erica Sanford, Kristen Wigby, Jacqueline Weir, Vicki S. Thomson, Louise Fraser, Seka S. Lazare, Yoon H. Shin, Haiying Grunenwald, Richard Lee, David Jones, Duke Tran, Andrew Gross, Patrick Daigle, Anne Case, Marisa Lue, James A. Richardson, John Reynders, Thomas Defay, Kevin P. Hall, Narayanan Veeraraghavan, Stephen F. Kingsmore

Publikováno v: Nature Communications, Vol 13, Iss 1, Pp 1-14 (2022)

Rapid diagnosis and implementation of treatments is crucial in many genetic conditions. Here the authors describe Genome-to-Treatment, a virtual disease management system that can achieve a rapid diagnosis by expedited whole genome sequencing in 13.5

Externí odkaz: https://doaj.org/article/c8a8f4d045b24f4586c6fb67d44e877e

Cost Efficacy of Rapid Whole Genome Sequencing in the Pediatric Intensive Care Unit

Autor: Erica Sanford Kobayashi, Bryce Waldman, Branden M. Engorn, Katherine Perofsky, Erika Allred, Benjamin Briggs, Chelsea Gatcliffe, Nanda Ramchandar, Jeffrey J. Gold, Ami Doshi, Elizabeth G. Ingulli, Courtney D. Thornburg, Wendy Benson, Lauge Farnaes, Shimul Chowdhury, Seema Rego, Charlotte Hobbs, Stephen F. Kingsmore, David P. Dimmock, Nicole G. Coufal

Publikováno v: Frontiers in Pediatrics, Vol 9 (2022)

The diagnostic and clinical utility of rapid whole genome sequencing (rWGS) for critically ill children in the intensive care unit (ICU) has been substantiated by multiple studies, but comprehensive cost-effectiveness evaluation of rWGS in the ICU ou

Externí odkaz: https://doaj.org/article/e4d764dcb81347038e600251a1741c59

Ending a diagnostic odyssey: Moving from exome to genome to identify cockayne syndrome

Autor: Jennifer Friedman, Lynne M. Bird, Richard Haas, Shira L. Robbins, Shareef A. Nahas, David P. Dimmock, Matthew J. Yousefzadeh, Mariah A. Witt, Laura J. Niedernhofer, Shimul Chowdhury

Publikováno v: Molecular Genetics & Genomic Medicine, Vol 9, Iss 7, Pp n/a-n/a (2021)

ABSTRACT Background Cockayne syndrome (CS) is a rare autosomal recessive disorder characterized by growth failure and multisystemic degeneration. Excision repair cross‐complementation group 6 (ERCC6 OMIM: *609413) is the gene most frequently mutate

Externí odkaz: https://doaj.org/article/8adc526922e441619f5e782f3745aa77

Efficient Precision Genome Editing in iPSCs via Genetic Co-targeting with Selection

Autor: Katie A. Mitzelfelt, Chris McDermott-Roe, Michael N. Grzybowski, Maribel Marquez, Chieh-Ti Kuo, Michael Riedel, Shuping Lai, Melinda J. Choi, Kurt D. Kolander, Daniel Helbling, David P. Dimmock, Michele A. Battle, Chuanchau J. Jou, Martin Tristani-Firouzi, James W. Verbsky, Ivor J. Benjamin, Aron M. Geurts

Publikováno v: Stem Cell Reports, Vol 8, Iss 3, Pp 491-499 (2017)

Genome editing in induced pluripotent stem cells is currently hampered by the laborious and expensive nature of identifying homology-directed repair (HDR)-modified cells. We present an approach where isolation of cells bearing a selectable, HDR-media

Externí odkaz: https://doaj.org/article/83b03a2018cb4c5d8fd10a28c1724404

Wastewater sequencing reveals early cryptic SARS-CoV-2 variant transmission

Autor: Smruthi Karthikeyan, Joshua I. Levy, Peter De Hoff, Greg Humphrey, Amanda Birmingham, Kristen Jepsen, Sawyer Farmer, Helena M. Tubb, Tommy Valles, Caitlin E. Tribelhorn, Rebecca Tsai, Stefan Aigner, Shashank Sathe, Niema Moshiri, Benjamin Henson, Adam M. Mark, Abbas Hakim, Nathan A. Baer, Tom Barber, Pedro Belda-Ferre, Marisol Chacón, Willi Cheung, Evelyn S. Cresini, Emily R. Eisner, Alma L. Lastrella, Elijah S. Lawrence, Clarisse A. Marotz, Toan T. Ngo, Tyler Ostrander, Ashley Plascencia, Rodolfo A. Salido, Phoebe Seaver, Elizabeth W. Smoot, Daniel McDonald, Robert M. Neuhard, Angela L. Scioscia, Alysson M. Satterlund, Elizabeth H. Simmons, Dismas B. Abelman, David Brenner, Judith C. Bruner, Anne Buckley, Michael Ellison, Jeffrey Gattas, Steven L. Gonias, Matt Hale, Faith Hawkins, Lydia Ikeda, Hemlata Jhaveri, Ted Johnson, Vince Kellen, Brendan Kremer, Gary Matthews, Ronald W. McLawhon, Pierre Ouillet, Daniel Park, Allorah Pradenas, Sharon Reed, Lindsay Riggs, Alison Sanders, Bradley Sollenberger, Angela Song, Benjamin White, Terri Winbush, Christine M. Aceves, Catelyn Anderson, Karthik Gangavarapu, Emory Hufbauer, Ezra Kurzban, Justin Lee, Nathaniel L. Matteson, Edyth Parker, Sarah A. Perkins, Karthik S. Ramesh, Refugio Robles-Sikisaka, Madison A. Schwab, Emily Spencer, Shirlee Wohl, Laura Nicholson, Ian H. McHardy, David P. Dimmock, Charlotte A. Hobbs, Omid Bakhtar, Aaron Harding, Art Mendoza, Alexandre Bolze, David Becker, Elizabeth T. Cirulli, Magnus Isaksson, Kelly M. Schiabor Barrett, Nicole L. Washington, John D. Malone, Ashleigh Murphy Schafer, Nikos Gurfield, Sarah Stous, Rebecca Fielding-Miller, Richard S. Garfein, Tommi Gaines, Cheryl Anderson, Natasha K. Martin, Robert Schooley, Brett Austin, Duncan R. MacCannell, Stephen F. Kingsmore, William Lee, Seema Shah, Eric McDonald, Alexander T. Yu, Mark Zeller, Kathleen M. Fisch, Christopher Longhurst, Patty Maysent, David Pride, Pradeep K. Khosla, Louise C. Laurent, Gene W. Yeo, Kristian G. Andersen, Rob Knight

Publikováno v: Nature. 609:101-108

As SARS-CoV-2 continues to spread and evolve, detecting emerging variants early is critical for public health interventions. Inferring lineage prevalence by clinical testing is infeasible at scale, especially in areas with limited resources, particip

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::bc578e5c58cb6a0cf1c43406a685a849
https://doi.org/10.1038/s41586-022-05049-6