Works by Sedlazeck, Fritz J


Results: 71
    1

    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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    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 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
    20

    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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    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
    36

    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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    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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