Works matching AU Sedlazeck, Fritz J


Results: 71
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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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    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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    FixItFelix: improving genomic analysis by fixing reference errors.

    Published in:
    Genome Biology, 2023, v. 24, n. 1, p. 1, doi. 10.1186/s13059-023-02863-7
    By:
    • Behera, Sairam;
    • LeFaive, Jonathon;
    • Orchard, Peter;
    • Mahmoud, Medhat;
    • Paulin, Luis F.;
    • Farek, Jesse;
    • Soto, Daniela C.;
    • Parker, Stephen C. J.;
    • Smith, Albert V.;
    • Dennis, Megan Y.;
    • Zook, Justin M.;
    • Sedlazeck, Fritz J.
    Publication type:
    Article
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    Assessing reproducibility of inherited variants detected with short-read whole genome sequencing.

    Published in:
    Genome Biology, 2022, v. 23, n. 1, p. 1, doi. 10.1186/s13059-021-02569-8
    By:
    • Pan, Bohu;
    • Ren, Luyao;
    • Onuchic, Vitor;
    • Guan, Meijian;
    • Kusko, Rebecca;
    • Bruinsma, Steve;
    • Trigg, Len;
    • Scherer, Andreas;
    • Ning, Baitang;
    • Zhang, Chaoyang;
    • Glidewell-Kenney, Christine;
    • Xiao, Chunlin;
    • Donaldson, Eric;
    • Sedlazeck, Fritz J.;
    • Schroth, Gary;
    • Yavas, Gokhan;
    • Grunenwald, Haiying;
    • Chen, Haodong;
    • Meinholz, Heather;
    • Meehan, Joe
    Publication type:
    Article
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    Hidden biases in germline structural variant detection.

    Published in:
    Genome Biology, 2021, v. 22, n. 1, p. 1, doi. 10.1186/s13059-021-02558-x
    By:
    • Khayat, Michael M.;
    • Sahraeian, Sayed Mohammad Ebrahim;
    • Zarate, Samantha;
    • Carroll, Andrew;
    • Hong, Huixiao;
    • Pan, Bohu;
    • Shi, Leming;
    • Gibbs, Richard A.;
    • Mohiyuddin, Marghoob;
    • Zheng, Yuanting;
    • Sedlazeck, Fritz J.
    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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    Analysis and benchmarking of small and large genomic variants across tandem repeats.

    Published in:
    Nature Biotechnology, 2025, v. 43, n. 3, p. 431, doi. 10.1038/s41587-024-02225-z
    By:
    • English, Adam C.;
    • Dolzhenko, Egor;
    • Ziaei Jam, Helyaneh;
    • McKenzie, Sean K.;
    • Olson, Nathan D.;
    • De Coster, Wouter;
    • Park, Jonghun;
    • Gu, Bida;
    • Wagner, Justin;
    • Eberle, Michael A.;
    • Gymrek, Melissa;
    • Chaisson, Mark J. P.;
    • Zook, Justin M.;
    • Sedlazeck, Fritz J.
    Publication type:
    Article
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    Detection of mosaic and population-level structural variants with Sniffles2.

    Published in:
    Nature Biotechnology, 2024, v. 42, n. 10, p. 1571, doi. 10.1038/s41587-023-02024-y
    By:
    • Smolka, Moritz;
    • Paulin, Luis F.;
    • Grochowski, Christopher M.;
    • Horner, Dominic W.;
    • Mahmoud, Medhat;
    • Behera, Sairam;
    • Kalef-Ezra, Ester;
    • Gandhi, Mira;
    • Hong, Karl;
    • Pehlivan, Davut;
    • Scholz, Sonja W.;
    • Carvalho, Claudia M. B.;
    • Proukakis, Christos;
    • Sedlazeck, Fritz J.
    Publication type:
    Article
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    Chromosome-scale, haplotype-resolved assembly of human genomes.

    Published in:
    Nature Biotechnology, 2021, v. 39, n. 3, p. 309, doi. 10.1038/s41587-020-0711-0
    By:
    • Garg, Shilpa;
    • Fungtammasan, Arkarachai;
    • Carroll, Andrew;
    • Chou, Mike;
    • Schmitt, Anthony;
    • Zhou, Xiang;
    • Mac, Stephen;
    • Peluso, Paul;
    • Hatas, Emily;
    • Ghurye, Jay;
    • Maguire, Jared;
    • Mahmoud, Medhat;
    • Cheng, Haoyu;
    • Heller, David;
    • Zook, Justin M.;
    • Moemke, Tobias;
    • Marschall, Tobias;
    • Sedlazeck, Fritz J.;
    • Aach, John;
    • Chin, Chen-Shan
    Publication type:
    Article
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    Nanopore sequencing and the Shasta toolkit enable efficient de novo assembly of eleven human genomes.

    Published in:
    Nature Biotechnology, 2020, v. 38, n. 9, p. 1044, doi. 10.1038/s41587-020-0503-6
    By:
    • Shafin, Kishwar;
    • Pesout, Trevor;
    • Lorig-Roach, Ryan;
    • Haukness, Marina;
    • Olsen, Hugh E.;
    • Bosworth, Colleen;
    • Armstrong, Joel;
    • Tigyi, Kristof;
    • Maurer, Nicholas;
    • Koren, Sergey;
    • Sedlazeck, Fritz J.;
    • Marschall, Tobias;
    • Mayes, Simon;
    • Costa, Vania;
    • Zook, Justin M.;
    • Liu, Kelvin J.;
    • Kilburn, Duncan;
    • Sorensen, Melanie;
    • Munson, Katy M.;
    • Vollger, Mitchell R.
    Publication type:
    Article
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    Targeted nanopore sequencing with Cas9-guided adapter ligation.

    Published in:
    Nature Biotechnology, 2020, v. 38, n. 4, p. 433, doi. 10.1038/s41587-020-0407-5
    By:
    • Gilpatrick, Timothy;
    • Lee, Isac;
    • Graham, James E.;
    • Raimondeau, Etienne;
    • Bowen, Rebecca;
    • Heron, Andrew;
    • Downs, Bradley;
    • Sukumar, Saraswati;
    • Sedlazeck, Fritz J;
    • Timp, Winston
    Publication type:
    Article
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    Characterizing a complex CT-rich haplotype in intron 4 of SNCA using large-scale targeted amplicon long-read sequencing.

    Published in:
    NPJ Parkinson's Disease, 2024, v. 10, n. 1, p. 1, doi. 10.1038/s41531-024-00749-4
    By:
    • Alvarez Jerez, Pilar;
    • Daida, Kensuke;
    • Grenn, Francis P.;
    • Malik, Laksh;
    • Miano-Burkhardt, Abigail;
    • Makarious, Mary B.;
    • Ding, Jinhui;
    • Gibbs, J. Raphael;
    • Moore, Anni;
    • Reed, Xylena;
    • Nalls, Mike A.;
    • Shah, Syed;
    • Mahmoud, Medhat;
    • Sedlazeck, Fritz J.;
    • Dolzhenko, Egor;
    • Park, Morgan;
    • Iwaki, Hirotaka;
    • Casey, Bradford;
    • Ryten, Mina;
    • Blauwendraat, Cornelis
    Publication type:
    Article
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    Profiling complex repeat expansions in RFC1 in Parkinson's disease.

    Published in:
    NPJ Parkinson's Disease, 2024, v. 10, n. 1, p. 1, doi. 10.1038/s41531-024-00723-0
    By:
    • Alvarez Jerez, Pilar;
    • Daida, Kensuke;
    • Miano-Burkhardt, Abigail;
    • Iwaki, Hirotaka;
    • Malik, Laksh;
    • Cogan, Guillaume;
    • Makarious, Mary B.;
    • Sullivan, Roisin;
    • Vandrovcova, Jana;
    • Ding, Jinhui;
    • Gibbs, J. Raphael;
    • Markham, Androo;
    • Nalls, Mike A.;
    • Kesharwani, Rupesh K.;
    • Sedlazeck, Fritz J.;
    • Casey, Bradford;
    • Hardy, John;
    • Houlden, Henry;
    • Blauwendraat, Cornelis;
    • Singleton, Andrew B.
    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 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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    A diploid assembly-based benchmark for variants in the major histocompatibility complex.

    Published in:
    Nature Communications, 2020, v. 11, n. 1, p. N.PAG, doi. 10.1038/s41467-020-18564-9
    By:
    • Chin, Chen-Shan;
    • Wagner, Justin;
    • Zeng, Qiandong;
    • Garrison, Erik;
    • Garg, Shilpa;
    • Fungtammasan, Arkarachai;
    • Rautiainen, Mikko;
    • Aganezov, Sergey;
    • Kirsche, Melanie;
    • Zarate, Samantha;
    • Schatz, Michael C.;
    • Xiao, Chunlin;
    • Rowell, William J.;
    • Markello, Charles;
    • Farek, Jesse;
    • Sedlazeck, Fritz J.;
    • Bansal, Vikas;
    • Yoo, Byunggil;
    • Miller, Neil;
    • Zhou, Xin
    Publication type:
    Article
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    Discovery and population genomics of structural variation in a songbird genus.

    Published in:
    Nature Communications, 2020, v. 11, n. 1, p. 1, doi. 10.1038/s41467-020-17195-4
    By:
    • Weissensteiner, Matthias H.;
    • Bunikis, Ignas;
    • Catalán, Ana;
    • Francoijs, Kees-Jan;
    • Knief, Ulrich;
    • Heim, Wieland;
    • Peona, Valentina;
    • Pophaly, Saurabh D.;
    • Sedlazeck, Fritz J.;
    • Suh, Alexander;
    • Warmuth, Vera M.;
    • Wolf, Jochen B. W.
    Publication type:
    Article
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