Publications

101 Results (Filters Applied)
  • Technology Innovation x
Nature Genetics. 2023 Nov. 9.

Most large structural variants in cancer genomes can be detected without long reads.

Zi-Ning Choo, Julie M. Behr, Aditya Deshpande, Kevin Hadi, Xiaotong Yao, Huasong Tian, Kaori Takai, George Zakusilo, Joel Rosiene, Arnaud Da Cruz Paula, Britta Weigelt, Jeremy Setton, Nadeem Riaz, Simon N. Powell, Klaus Busam, Alexander N. Shoushtari, Charlotte Ariyan, Jorge Reis-Filho, Titia de Lange & Marcin Imieliński

Cell Genomics. 2022 Apr. 28.

Benchmarking challenging small variants with linked and long reads.

Justin Wagner, Nathan D Olson, Lindsay Harris, Ziad Khan, Jesse Farek, Medhat Mahmoud, Ana Stankovic, Vladimir Kovacevic, Aaron M Wenger, William J Rowell, Chunlin Xiao, Byunggil Yoo, Neil Miller, Jeffrey A Rosenfeld, Bohan Ni, Samantha Zarate, Melanie Kirsche, Sergey Aganezov, Michael Schatz, Giuseppe Narzisi, Marta Byrska-Bishop, Wayne Clarke, Uday S Evani, Charles Markello, Kishwar Shafin, Xin Zhou, Arend Sidow, Vikas Bansal, Alvaro Martinez Barrio, Ian T Fiddes, Arkarachai Fungtammasan, Chen-Shan Chin, Fritz J Sedlazeck, Andrew Carroll, Marc Salit, Justin M Zook, Genome in a Bottle Consortium
npj Genomic Medicine. 2022 Apr. 8.

Best practices for the interpretation and reporting of clinical whole genome sequencing.

Christina A. Austin-Tse, Vaidehi Jobanputra, Denise L. Perry, David Bick, Ryan J. Taft, Eric Venner, Richard A. Gibbs, Ted Young, Sarah Barnett, John W. Belmont, Nicole Boczek, Shimul Chowdhury, Katarzyna A. Ellsworth, Saurav Guha, Shashikant Kulkarni, Cherisse Marcou, Linyan Meng, David R. Murdock, Atteeq U. Rehman, Elizabeth Spiteri, Amanda Thomas-Wilson, Hutton M. Kearney, Heidi L. Rehm & Medical Genome Initiative*

Nature Communications. 2021 Sept. 13.

Multi-platform profiling characterizes molecular subgroups and resistance networks in chronic lymphocytic leukemia.

Bloehdorn J, Braun A, Taylor-Weiner A, Jebaraj BMC, Robrecht S, Krzykalla J, Pan H, Giza A, Akylzhanova G, Holzmann K, Scheffold A, Johnston HE, Yeh RF, Klymenko T, Tausch E, Eichhorst B, Bullinger L, Fischer K, Weisser M, Robak T, Schneider C, Gribben J, Dahal LN, Carter MJ, Elemento O, Landau DA, Neuberg DS, Cragg MS, Benner A, Hallek M, Wu CJ, Döhner H, Stilgenbauer S, Mertens D.

This work was partially supported by a gift from the Simons Foundation.