Works matching AU Fritz, J.

Results: 334
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    Development and extensive sequencing of a broadly-consented Genome in a Bottle matched tumor-normal pair.

    Published in:
    Scientific Data, 2025, v. 12, n. 1, p. 1, doi. 10.1038/s41597-025-05438-2
    By:
    • McDaniel, Jennifer H.;
    • Patel, Vaidehi;
    • Olson, Nathan D.;
    • He, Hua-Jun;
    • He, Zhiyong;
    • Cole, Kenneth D.;
    • Gooden, Alexander A.;
    • Schmitt, Anthony;
    • Sikkink, Kristin;
    • Sedlazeck, Fritz J.;
    • Doddapaneni, Harsha;
    • Jhangiani, Shalini N.;
    • Muzny, Donna M.;
    • Gingras, Marie-Claude;
    • Mehta, Heer;
    • Behera, Sairam;
    • Paulin, Luis F.;
    • Hastie, Alex R.;
    • Yu, Hung-Chun;
    • Weigman, Victor
    Publication type:
    Article
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    Comprehensive genome analysis and variant detection at scale using DRAGEN.

    Published in:
    Nature Biotechnology, 2025, v. 43, n. 7, p. 1177, doi. 10.1038/s41587-024-02382-1
    By:
    • Behera, Sairam;
    • Catreux, Severine;
    • Rossi, Massimiliano;
    • Truong, Sean;
    • Huang, Zhuoyi;
    • Ruehle, Michael;
    • Visvanath, Arun;
    • Parnaby, Gavin;
    • Roddey, Cooper;
    • Onuchic, Vitor;
    • Finocchio, Andrea;
    • Cameron, Daniel L.;
    • English, Adam;
    • Mehtalia, Shyamal;
    • Han, James;
    • Mehio, Rami;
    • Sedlazeck, Fritz J.
    Publication type:
    Article
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    Nachbehandlung bei der autologen Chondrozytentransplantation.

    Published in:
    Der Unfallchirurg, 2014, v. 117, n. 3, p. 235, doi. 10.1007/s00113-012-2293-x
    By:
    • Pietschmann, M.F.;
    • Horng, A.;
    • Glaser, C.;
    • Albrecht, D.;
    • Bruns, J.;
    • Scheffler, S.;
    • Marlovits, S.;
    • Angele, P.;
    • Aurich, M.;
    • Bosch, U.;
    • Fritz, J.;
    • Frosch, K.H.;
    • Kolombe, T.;
    • Richter, W.;
    • Petersen, J.P.;
    • Nöth, U.;
    • Niemeyer, P.;
    • Jagodzinsky, M.;
    • Kasten, P.;
    • Ruhnau, K.
    Publication type:
    Article
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    Knorpelzelltransplantation.

    Published in:
    Der Unfallchirurg, 2006, v. 109, n. 7, p. 577, doi. 10.1007/s00113-006-1122-5
    By:
    • Schewe, B.;
    • Fritz, J.;
    • Gaissmaier, C.;
    • Weise, K.
    Publication type:
    Article
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    Parliament2: Accurate structural variant calling at scale.

    Published in:
    GigaScience, 2020, v. 9, n. 12, p. 1, doi. 10.1093/gigascience/giaa145
    By:
    • Zarate, Samantha;
    • Carroll, Andrew;
    • Mahmoud, Medhat;
    • Krasheninina, Olga;
    • Jun, Goo;
    • Salerno, William J;
    • Schatz, Michael C;
    • Boerwinkle, Eric;
    • Gibbs, Richard A;
    • Sedlazeck, Fritz J
    Publication type:
    Article
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    The GIAB genomic stratifications resource for human reference genomes.

    Published in:
    Nature Communications, 2024, v. 15, n. 1, p. 1, doi. 10.1038/s41467-024-53260-y
    By:
    • Dwarshuis, Nathan;
    • Kalra, Divya;
    • McDaniel, Jennifer;
    • Sanio, Philippe;
    • Alvarez Jerez, Pilar;
    • Jadhav, Bharati;
    • Huang, Wenyu;
    • Mondal, Rajarshi;
    • Busby, Ben;
    • Olson, Nathan D.;
    • Sedlazeck, Fritz J.;
    • Wagner, Justin;
    • Majidian, Sina;
    • Zook, Justin M.
    Publication type:
    Article
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    Structural variant calling: the long and the short of it.

    Published in:
    Genome Biology, 2019, v. 20, n. 1, p. N.PAG, doi. 10.1186/s13059-019-1828-7
    By:
    • Mahmoud, Medhat;
    • Gobet, Nastassia;
    • Cruz-Dávalos, Diana Ivette;
    • Mounier, Ninon;
    • Dessimoz, Christophe;
    • Sedlazeck, Fritz J.
    Publication type:
    Article
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    A cluster of two human cases of tick-borne encephalitis (TBE) transmitted by unpasteurised goat milk and cheese in Germany, May 2016.

    Published in:
    Eurosurveillance (15607917), 2018, v. 23, n. 15, p. 8, doi. 10.2807/1560-7917.ES.2018.23.15.17-00336
    By:
    • Brockmann, S. O.;
    • Oehme, R.;
    • Buckenmaier, T.;
    • Beer, M.;
    • Jeffery-Smith, A.;
    • Spannenkrebs, M.;
    • Haag-Milz, S.;
    • Wagner-Wiening, C.;
    • Schlegel, C.;
    • Fritz, J.;
    • Zange, S.;
    • Bestehorn, M.;
    • Lindau, A.;
    • Hoffmann, D.;
    • Tiberi, S.;
    • Mackenstedt, U.;
    • Dobler, G.
    Publication type:
    Article
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    A biallelic frameshift indel in PPP1R35 as a cause of primary microcephaly.

    Published in:
    American Journal of Medical Genetics. Part A, 2023, v. 191, n. 3, p. 794, doi. 10.1002/ajmg.a.63080
    By:
    • Dawood, Moez;
    • Akay, Gulsen;
    • Mitani, Tadahiro;
    • Marafi, Dana;
    • Fatih, Jawid M.;
    • Gezdirici, Alper;
    • Najmabadi, Hossein;
    • Kahrizi, Kimia;
    • Punetha, Jaya;
    • Grochowski, Christopher M.;
    • Du, Haowei;
    • Jolly, Angad;
    • Li, He;
    • Coban‐Akdemir, Zeynep;
    • Sedlazeck, Fritz J.;
    • Hunter, Jill V.;
    • Jhangiani, Shalini N.;
    • Muzny, Donna;
    • Pehlivan, Davut;
    • Posey, Jennifer E.
    Publication type:
    Article
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    The role of common structural variants in Alzheimer's disease.

    Published in:
    Alzheimer's & Dementia: The Journal of the Alzheimer's Association, 2024, v. 20, p. 1, doi. 10.1002/alz.092501
    By:
    • Lee, Songmi;
    • Xia, Rui;
    • English, Adam C;
    • Peloso, Gina M.;
    • Bis, Josh;
    • Lin, Honghuang;
    • Choi, Seung Hoan;
    • Heard‐Costa, Nancy;
    • DeStefano, Anita L.;
    • Sedlazeck, Fritz J;
    • Fornage, Myriam
    Publication type:
    Article
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    Cover art.

    Published in:
    2009
    By:
    • Fritz J
    Publication type:
    Journal Article
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