Publication > Page 24
  • Cell Genomics  ·  April 28, 2022

    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
    Biology, Genomics & Technology Technology Innovation Computational Biology Lab
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  • Nature Communications  ·  April 28, 2022

    Somatic whole genome dynamics of precancer in Barrett’s esophagus reveals features associated with disease progression.

    Thomas G. Paulson, Patricia C. Galipeau, Kenji M. Oman, Carissa A. Sanchez, Mary K. Kuhner, Lucian P. Smith, Kevin Hadi, Minita Shah, Kanika Arora, Jennifer Shelton, Molly Johnson, Andre Corvelo, Carlo C. Maley, Xiaotong Yao, Rashesh Sanghvi, Elisa Venturini, Anne-Katrin Emde, Benjamin Hubert, Marcin Imielinski, Nicolas Robine, Brian J. Reid & Xiaohong Li

    Imieliński Lab Cancer Biology, Genomics & Technology Computational Biology Lab
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  • Nature Genetics  ·  April 11, 2022

    Pangenome-based genome inference allows efficient and accurate genotyping across a wide spectrum of variant classes.

    Jana Ebler, Peter Ebert, Wayne E. Clarke, Tobias Rausch, Peter A. Audano, Torsten Houwaart, Yafei Mao, Jan O. Korbel, Evan E. Eichler, Michael C. Zody, Alexander T. Dilthey & Tobias Marschall

    Computational Biology Lab
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  • npj Genomic Medicine  ·  April 8, 2022

    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*

    Biology, Genomics & Technology Technology Innovation
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  • Cell Stem Cell  ·  April 7, 2022

    Specification of fetal liver endothelial progenitors to functional zonated adult sinusoids requires c-Maf induction.

    Jesus Maria Gómez-Salinero, Franco Izzo, Yang Lin, Sean Houghton, Tomer Itkin, Fuqiang Geng, Yaron Bram, Robert P Adelson, Tyler M Lu, Giorgio Inghirami, Jenny Zhaoying Xiang, Raphael Lis, David Redmond, Ryan Schreiner, Sina Y Rabbany, Dan A Landau, Robert E Schwartz, Shahin Rafii

    Landau Lab Biology, Genomics & Technology
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  • Nature Neuroscience  ·  March 31, 2022

    Whole-genome sequencing reveals that variants in the Interleukin 18 Receptor Accessory Protein 3′UTR protect against ALS.

    Chen Eitan, Aviad Siany, Elad Barkan, Tsviya Olender, Kristel R. van Eijk, Matthieu Moisse, Sali M. K. Farhan, Yehuda M. Danino, Eran Yanowski, Hagai Marmor-Kollet, Natalia Rivkin, Nancy Sarah Yacovzada, Shu-Ting Hung, Johnathan Cooper-Knock, Chien-Hsiung Yu, Cynthia Louis, Seth L. Masters, Kevin P. Kenna, Rick A. A. van der Spek, William Sproviero, Ahmad Al Khleifat, Alfredo Iacoangeli, Aleksey Shatunov, Ashley R. Jones, Yael Elbaz-Alon, Yahel Cohen, Elik Chapnik, Daphna Rothschild, Omer Weissbrod, Gilad Beck, Elena Ainbinder, Shifra Ben-Dor, Sebastian Werneburg, Dorothy P. Schafer, Robert H. Brown Jr, Pamela J. Shaw, Philip Van Damme, Leonard H. van den Berg, Hemali Phatnani, Eran Segal, Justin K. Ichida, Ammar Al-Chalabi, Jan H. Veldink, Project MinE ALS Sequencing Consortium, NYGC ALS Consortium & Eran Hornstein

    Phatnani Lab Neurodegenerative Disease
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  • Nature Communications  ·  March 28, 2022

    Nasal airway transcriptome-wide association study of asthma reveals genetically driven mucus pathobiology.

    Satria P Sajuthi, Jamie L Everman, Nathan D Jackson, Benjamin Saef, Cydney L Rios, Camille M Moore, Angel C Y Mak, Celeste Eng, Ana Fairbanks-Mahnke, Sandra Salazar, Jennifer Elhawary, Scott Huntsman, Vivian Medina, Deborah A Nickerson, Soren Germer, Michael C Zody, Gonçalo Abecasis, Hyun Min Kang, Kenneth M Rice, Rajesh Kumar, Noah A Zaitlen, Sam Oh, NHLBI Trans-Omics for Precision Medicine (TOPMed) Consortium; José Rodríguez-Santana, Esteban G Burchard, Max A Seibold

    Biology, Genomics & Technology Computational Biology Lab
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