Searching journal content for Konrad J. Karczewski in author.

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  1. Resource: A harmonized public resource of deeply sequenced diverse human genomes
    • Zan Koenig,
    • Mary T. Yohannes,
    • Lethukuthula L. Nkambule,
    • Xuefang Zhao,
    • Julia K. Goodrich,
    • Heesu Ally Kim,
    • Michael W. Wilson,
    • Grace Tiao,
    • Stephanie P. Hao,
    • Nareh Sahakian,
    • Katherine R. Chao,
    • Mark A. Walker,
    • Yunfei Lyu,
    • gnomAD Project Consortium,
    • Heidi L. Rehm,
    • Benjamin M. Neale,
    • Michael E. Talkowski,
    • Mark J. Daly,
    • Harrison Brand,
    • Konrad J. Karczewski,
    • Elizabeth G. Atkinson,
    • and Alicia R. Martin
    Genome Res. May 2024 34: 796-809; Published in Advance May 15, 2024, doi:10.1101/gr.278378.123
  2. Resource: Discordant calls across genotype discovery approaches elucidate variants with systematic errors
    • Elizabeth G. Atkinson,
    • Mykyta Artomov,
    • Alexander A. Loboda,
    • Heidi L. Rehm,
    • Daniel G. MacArthur,
    • Konrad J. Karczewski,
    • Benjamin M. Neale,
    • and Mark J. Daly
    Genome Res. May 30, 2023 ; Published in Advance May 30, 2023, doi:10.1101/gr.277908.123
  3. Research: Base-specific mutational intolerance near splice sites clarifies the role of nonessential splice nucleotides
    • Sidi Zhang,
    • Kaitlin E. Samocha,
    • Manuel A. Rivas,
    • Konrad J. Karczewski,
    • Emma Daly,
    • Ben Schmandt,
    • Benjamin M. Neale,
    • Daniel G. MacArthur,
    • and Mark J. Daly
    Genome Res. July 2018 28: 968-974; Published in Advance June 1, 2018, doi:10.1101/gr.231902.117
  4. Method: Co-expression networks reveal the tissue-specific regulation of transcription and splicing
    • Ashis Saha,
    • Yungil Kim,
    • Ariel D.H. Gewirtz,
    • Brian Jo,
    • Chuan Gao,
    • Ian C. McDowell,
    • The GTEx Consortium,
    • Barbara E. Engelhardt,
    • and Alexis Battle
    Genome Res. November 2017 27: 1843-1858; Published in Advance October 11, 2017, doi:10.1101/gr.216721.116
    OPEN ACCESS ARTICLE
  5. Method: Identifying cis-mediators for trans-eQTLs across many human tissues using genomic mediation analysis
    • Fan Yang,
    • Jiebiao Wang,
    • The GTEx Consortium,
    • Brandon L. Pierce,
    • and Lin S. Chen
    Genome Res. November 2017 27: 1859-1871; Published in Advance October 11, 2017, doi:10.1101/gr.216754.116
  6. Research: The origin, evolution, and functional impact of short insertion–deletion variants identified in 179 human genomes
    • Stephen B. Montgomery,
    • David L. Goode,
    • Erika Kvikstad,
    • Cornelis A. Albers,
    • Zhengdong D. Zhang,
    • Xinmeng Jasmine Mu,
    • Guruprasad Ananda,
    • Bryan Howie,
    • Konrad J. Karczewski,
    • Kevin S. Smith,
    • Vanessa Anaya,
    • Rhea Richardson,
    • Joe Davis,
    • The 1000 Genomes Project Consortium,
    • Daniel G. MacArthur,
    • Arend Sidow,
    • Laurent Duret,
    • Mark Gerstein,
    • Kateryna D. Makova,
    • Jonathan Marchini,
    • Gil McVean,
    • and Gerton Lunter
    Genome Res. May 2013 23: 749-761; Published in Advance March 11, 2013, doi:10.1101/gr.148718.112
    OPEN ACCESS ARTICLE
  7. Resource: Annotation of functional variation in personal genomes using RegulomeDB
    • Alan P. Boyle,
    • Eurie L. Hong,
    • Manoj Hariharan,
    • Yong Cheng,
    • Marc A. Schaub,
    • Maya Kasowski,
    • Konrad J. Karczewski,
    • Julie Park,
    • Benjamin C. Hitz,
    • Shuai Weng,
    • J. Michael Cherry,
    • and Michael Snyder
    Genome Res. September 2012 22: 1790-1797; doi:10.1101/gr.137323.112
    OPEN ACCESS ARTICLE
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