Found: 7

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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

  • Solution hybrid selection with ultra-long oligonucleotides for massively parallel targeted sequencing.

    Published in:
    Nature Biotechnology, 2009, v. 27, n. 2, p. 182, doi. 10.1038/nbt.1523
    By:
    • Gnirke, Andreas;
    • Melnikov, Alexandre;
    • Maguire, Jared;
    • Rogov, Peter;
    • LeProust, Emily M;
    • Brockman, William;
    • Fennell, Timothy;
    • Giannoukos, Georgia;
    • Fisher, Sheila;
    • Russ, Carsten;
    • Gabriel, Stacey;
    • Jaffe, David B;
    • Lander, Eric S;
    • Nusbaum, Chad
    Publication type:
    Article

  • Comparing strategies to fine-map the association of common SNPs at chromosome 9p21 with type 2 diabetes and myocardial infarction.

    Published in:
    Nature Genetics, 2011, v. 43, n. 8, p. 801, doi. 10.1038/ng.871
    By:
    • Shea, Jessica;
    • Agarwala, Vineeta;
    • Philippakis, Anthony A;
    • Maguire, Jared;
    • Banks, Eric;
    • DePristo, Mark;
    • Thomson, Brian;
    • Guiducci, Candace;
    • Onofrio, Robert C.;
    • M. I. G.C.;
    • Kathiresan, Sekar;
    • Gabriel, Stacey;
    • Burtt, Noël P.;
    • Daly, Mark J.;
    • Groop, Leif;
    • Altshuler, David
    Publication type:
    Article

  • A framework for variation discovery and genotyping using next-generation DNA sequencing data.

    Published in:
    Nature Genetics, 2011, v. 43, n. 5, p. 491, doi. 10.1038/ng.806
    By:
    • DePristo, Mark A.;
    • Banks, Eric;
    • Poplin, Ryan;
    • Garimella, Kiran V.;
    • Maguire, Jared R.;
    • Hartl, Christopher;
    • Philippakis, Anthony A.;
    • del Angel, Guillermo;
    • Rivas, Manuel A.;
    • Hanna, Matt;
    • McKenna, Aaron;
    • Fennell, Tim J.;
    • Kernytsky, Andrew M.;
    • Sivachenko, Andrey Y.;
    • Cibulskis, Kristian;
    • Gabriel, Stacey B.;
    • Altshuler, David;
    • Daly, Mark J.
    Publication type:
    Article

  • Detecting clinically actionable variants in the 3′ exons of PMS2 via a reflex workflow based on equivalent hybrid capture of the gene and its pseudogene.

    Published in:
    BMC Medical Genetics, 2018, v. 19, n. 1, p. N.PAG, doi. 10.1186/s12881-018-0691-9
    By:
    • Gould, Genevieve M;
    • Grauman, Peter V;
    • Theilmann, Mark R;
    • Spurka, Lindsay;
    • Wang, Irving E;
    • Melroy, Laura M;
    • Chin, Robert G;
    • Hite, Dustin H;
    • Chu, Clement S;
    • Maguire, Jared R;
    • Hogan, Gregory J;
    • Muzzey, Dale
    Publication type:
    Article

  • Patterns and rates of exonic de novo mutations in autism spectrum disorders.

    Published in:
    Nature, 2012, v. 485, n. 7397, p. 242, doi. 10.1038/nature11011
    By:
    • Neale, Benjamin M.;
    • Kou, Yan;
    • Liu, Li;
    • Ma'ayan, Avi;
    • Samocha, Kaitlin E.;
    • Sabo, Aniko;
    • Lin, Chiao-Feng;
    • Stevens, Christine;
    • Wang, Li-San;
    • Makarov, Vladimir;
    • Polak, Paz;
    • Yoon, Seungtai;
    • Maguire, Jared;
    • Crawford, Emily L.;
    • Campbell, Nicholas G.;
    • Geller, Evan T.;
    • Valladares, Otto;
    • Schafer, Chad;
    • Liu, Han;
    • Zhao, Tuo
    Publication type:
    Article

  • zCall: a rare variant caller for array-based genotyping.

    Published in:
    Bioinformatics, 2012, v. 28, n. 19, p. 2543, doi. 10.1093/bioinformatics/bts479
    By:
    • Goldstein, Jacqueline I.;
    • Crenshaw, Andrew;
    • Carey, Jason;
    • Grant, George B.;
    • Maguire, Jared;
    • Fromer, Menachem;
    • O’Dushlaine, Colm;
    • Moran, Jennifer L.;
    • Chambert, Kimberly;
    • Stevens, Christine;
    • Sklar, Pamela;
    • Hultman, Christina M.;
    • Purcell, Shaun;
    • McCarroll, Steven A.;
    • Sullivan, Patrick F.;
    • Daly, Mark J.;
    • Neale, Benjamin M.
    Publication type:
    Article