Publication > Page 49
  • Nature Communications  ·  October 30, 2020

    Optimized design of single-cell RNA sequencing experiments for cell-type-specific eQTL analysis.

    Mandric I, Schwarz T, Majumdar A, Hou K, Briscoe L, Perez R, Subramaniam M, Hafemeister C, Satija R, Ye CJ, Pasaniuc B, Halperin E.

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  • American Journal of Human Genetics  ·  October 26, 2020

    Variant Classification Concordance using the ACMG-AMP Variant Interpretation Guidelines across Nine Genomic Implementation Research Studies.

    Laura M Amendola, Kathleen Muenzen, Leslie G Biesecker, Kevin M Bowling, Greg M Cooper, Michael O Dorschner, Catherine Driscoll, Ann Katherine M Foreman, Katie Golden-Grant, John M Greally, Lucia Hindorff, Dona Kanavy , Vaidehi Jobanputra, Jennifer J Johnston, Eimear E Kenny, Shannon McNulty, Priyanka Murali, Jeffrey Ou, Bradford C Powell, Heidi L Rehm, Bradley Rolf, Tamara S Roman, Jessica Van Ziffle, Saurav Guha, Avinash Abhyankar, David Crosslin, Eric Venner, Bo Yuan, Hana Zouk, CSER Sequencing and Diagnostic Yield working group; Gail P Jarvik

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  • Cell  ·  October 24, 2020

    Identification of required host factors for SARS-CoV-2 infection in human cells.

    Zharko Daniloski, Tristan X. Jordan, Hans-Hermann Wessels, Daisy A. Hoagland, Silva Kasela, Mateusz Legut, Silas Maniatis, Eleni P. Mimitou, Lu Lu, Evan Geller, Oded Danziger, Brad R. Rosenberg, Hemali Phatnani, Peter Smibert, Tuuli Lappalainen, Benjamin R. tenOever, Neville E. Sanjana

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  • Nature  ·  October 23, 2020

    Best practices for the analytical validation of clinical whole-genome sequencing intended for the diagnosis of germline disease.

    Christian R. Marshall, Shimul Chowdhury, Ryan J. Taft, Mathew S. Lebo, Jillian G. Buchan, Steven M. Harrison, Ross Rowsey, Eric W. Klee, Pengfei Liu, Elizabeth A. Worthey, Vaidehi Jobanputra, David Dimmock, Hutton M. Kearney, David Bick, Shashikant Kulkarni, Stacie L. Taylor, John W. Belmont, Dimitri J. Stavropoulos, Niall J. Lennon & Medical Genome Initiative

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  • The Journal of Molecular Diagnostics  ·  October 23, 2020

    Detection of Copy Number Variants by Short Multiply Aggregated Sequence Homologies.

    Vaidehi Jobanputra, Peter Andrews, Vanessa Felice, Avinash Abhyankar, Lukasz Kozon, Dino Robinson, Ferrah London, Inessa Hakker, Kazimierz Wrzeszczynski, Michael Ronemus

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  • Journal of Investigative Dermatology  ·  October 19, 2020

    Targeted knockout of β-catenin in adult melanocyte stem cells using a mouse line, Dct::CreERT2, results in disrupted stem cell renewal and pigmentation defects.

    Madeleine Le. Coz, Zackie Aktary, Natsuki Watanabe, Ichiro Yajima, Marie Pouteaux, Nisamanee Charoenchon, Tsutomu Motohashi, Takahiro Kunisada, André Corvelo, Lionel Larue

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  • Nature Communications  ·  October 14, 2020

    Whole genome sequence analysis of pulmonary function and COPD in 19,996 multi-ethnic participants.

    Zhao X, Qiao D, Yang C, Kasela S, Kim W, Ma Y, Shrine N, Batini C, Sofer T, Taliun SAG, Sakornsakolpat P, Balte PP, Prokopenko D, Yu B, Lange LA, Dupuis J, Cade BE, Lee J, Gharib SA, Daya M, Laurie CA, Ruczinski I, Cupples LA, Loehr LR, Bartz TM, Morrison AC, Psaty BM, Vasan RS, Wilson JG, Taylor KD, Durda P, Johnson WC, Cornell E, Guo X, Liu Y, Tracy RP, Ardlie KG, Aguet F, VanDenBerg DJ, Papanicolaou GJ, Rotter JI, Barnes KC, Jain D, Nickerson DA, Muzny DM, Metcalf GA, Doddapaneni H, Dugan-Perez S, Gupta N, Gabriel S, Rich SS, O’Connor GT, Redline S, Reed RM, Laurie CC, Daviglus ML, Preudhomme LK, Burkart KM, Kaplan RC, Wain LV, Tobin MD, London SJ, Lappalainen T, Oelsner EC, Abecasis GR, Silverman EK, Barr RG; NHLBI Trans-Omics for Precision Medicine (TOPMed) Consortium; TOPMed Lung Working Group, Cho MH, Manichaikul A.

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  • Nature Communications  ·  October 12, 2020

    Type 2 and interferon inflammation strongly regulate SARS-CoV-2 related gene expression in the airway epithelium.

    Satria P Sajuthi, Peter DeFord, Nathan D Jackson, Michael T Montgomery, Jamie L Everman, Cydney L Rios, Elmar Pruesse, James D Nolin, Elizabeth G Plender, Michael E Wechsler, Angel CY Mak, Celeste Eng, Sandra Salazar, Vivian Medina, Eric M Wohlford, Scott Huntsman, Deborah A Nickerson, Soren Germer, Michael C Zody, Goncalo Abecasis, Hyun Min Kang, Kenneth M Rice, Rajesh Kumar, Sam Oh, Jose Rodriguez-Santana, Esteban G Burchard, Max A Seibold

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  • Cell  ·  October 9, 2020

    Key Parameters of Tumor Epitope Immunogenicity Revealed Through a Consortium Approach Improve Neoantigen Prediction

    Daniel K. Wells, Marit M. van Buuren, Kristen K. Dang, Vanessa M. Hubbard-Lucey, Kathleen C.F. Sheehan, Katie M. Campbell, Andrew Lamb, Jeffrey P. Ward, John Sidney,Ana B. Blazquez,Andrew J. Rech, Jesse M. Zaretsky, Begonya Comin-Anduix, Alphonsus H.C. Ng, William Chour, Thomas V. Yu, Hira Rizvi, Jia M. Chen, Patrice Manning, Gabriela M. Steiner, Xengie C. Doan, The Tumor Neoantigen Selection Alliance, Taha Merghoub,Justin Guinney, Adam Kolom, Cheryl Selinsky, Antoni Ribas, Matthew D. Hellmann, Nir Hacohen, Alessandro Sette, James R. Heath, Nina Bhardwaj, Fred Ramsdell, Robert D. Schreiber, Ton N. Schumacher, Pia Kvistborg, and Nadine A. Defranoux

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