檢索結果 - Daniel G. MacArthur

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  1. 1
    Face up to false positives

    Face up to false positives 由 Daniel G. MacArthur

    出版 2012
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  2. 2
    ACTN3

    ACTN3 由 Daniel G. MacArthur, Kathryn N. North

    出版 2007
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  3. 3
    Loss-of-function variants in the genomes of healthy humans

    Loss-of-function variants in the genomes of healthy humans 由 Daniel G. MacArthur, Chris Tyler‐Smith

    出版 2010
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  4. 4
    The mutational constraint spectrum quantified from variation in 141,456 humans

    The mutational constraint spectrum quantified from variation in 141,456 humans 由 Konrad J. Karczewski, Laurent C. Francioli, Daniel G. MacArthur

    出版 2020
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  5. 5
    Dindel: Accurate indel calls from short-read data

    Dindel: Accurate indel calls from short-read data 由 Cornelis A. Albers, Gerton Lunter, Daniel G. MacArthur, Gil McVean, Willem H. Ouwehand, Richard Durbin

    出版 2010
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  6. 6
    Mutations in<i>eIF4ENIF1</i>Are Associated With Primary Ovarian Insufficiency

    Mutations in<i>eIF4ENIF1</i>Are Associated With Primary Ovarian Insufficiency 由 Thushiga Kasippillai, Daniel G. MacArthur, Andrew Kirby, Brett Thomas, Cornelis B. Lambalk, Mark J. Daly, Corrine K. Welt

    出版 2013
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  7. 7
    ACTN3 Genotype Is Associated with Human Elite Athletic Performance

    ACTN3 Genotype Is Associated with Human Elite Athletic Performance 由 Nan Yang, Daniel G. MacArthur, Jason P. Gulbin, Allan G. Hahn, Alan H. Beggs, Simon Easteal, Kathryn N. North

    出版 2003
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  8. 8
    UDP-N-Acetylglucosamine 2-Epimerase/N-Acetylmannosamine Kinase (GNE) Binds to Alpha-Actinin 1: Novel Pathways in Skeletal Muscle?

    UDP-N-Acetylglucosamine 2-Epimerase/N-Acetylmannosamine Kinase (GNE) Binds to Alpha-Actinin 1: Novel Pathways in Skeletal Muscle? 由 Shira Amsili, Hagit Zer, Stephan Hinderlich, Sabine Krause, Michal Becker‐Cohen, Daniel G. MacArthur, Kathryn N. North, Stella Mitrani‐Rosenbaum

    出版 2008
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  9. 9
    An eMERGE Clinical Center at Partners Personalized Medicine

    An eMERGE Clinical Center at Partners Personalized Medicine 由 Jordan W. Smoller, Elizabeth W. Karlson, Robert C. Green, Sekar Kathiresan, Daniel G. MacArthur, Michael E. Talkowski, Shawn N. Murphy, Scott T. Weiss

    出版 2016
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  10. 10
    Using ALoFT to determine the impact of putative loss-of-function variants in protein-coding genes

    Using ALoFT to determine the impact of putative loss-of-function variants in protein-coding genes 由 Suganthi Balasubramanian, Yao Fu, Mayur Pawashe, Patrick D. McGillivray, Mike Jin, Jeremy Liu, Konrad J. Karczewski, Daniel G. MacArthur, Mark Gerstein

    出版 2017
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  11. 11
    Human genetic variation alters CRISPR-Cas9 on- and off-targeting specificity at therapeutically implicated loci

    Human genetic variation alters CRISPR-Cas9 on- and off-targeting specificity at therapeutically implicated loci 由 Samuel Lessard, Laurent C. Francioli, Jessica Alföldi, Jean‐Claude Tardif, Patrick T. Ellinor, Daniel G. MacArthur, Guillaume Lettre, Stuart H. Orkin, Matthew C. Canver

    出版 2017
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  12. 12
    Association analysis of the ACTN3 R577X polymorphism and complex quantitative body composition and performance phenotypes in adolescent Greeks

    Association analysis of the ACTN3 R577X polymorphism and complex quantitative body composition and performance phenotypes in adolescent Greeks 由 Colin N. Moran, Nan Yang, Mark E.S. Bailey, Αθανάσιος Τσιόκανος, Athanasios Z. Jamurtas, Daniel G. MacArthur, Kathryn N. North, Yannis Pitsiladis, Richard H. Wilson

    出版 2006
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  13. 13
    Quantifying unobserved protein-coding variants in human populations provides a roadmap for large-scale sequencing projects

    Quantifying unobserved protein-coding variants in human populations provides a roadmap for large-scale sequencing projects 由 James Zou, Gregory Valiant, Paul Valiant, Konrad J. Karczewski, Siu On Chan, Kaitlin E. Samocha, Monkol Lek, Shamil Sunyaev, Mark J. Daly, Daniel G. MacArthur

    出版 2016
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  14. 14
    Base-specific mutational intolerance near splice sites clarifies the role of nonessential splice nucleotides

    Base-specific mutational intolerance near splice sites clarifies the role of nonessential splice nucleotides 由 Sidi Zhang, Kaitlin E. Samocha, Manuel A. Rivas, Konrad J. Karczewski, Emma Daly, Ben Schmandt, Benjamin M. Neale, Daniel G. MacArthur, Mark J. Daly

    出版 2018
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  15. 15
    Patterns of genic intolerance of rare copy number variation in 59,898 human exomes

    Patterns of genic intolerance of rare copy number variation in 59,898 human exomes 由 Douglas M. Ruderfer, Tymor Hamamsy, Monkol Lek, Konrad J. Karczewski, David Kavanagh, Kaitlin E. Samocha, Mark J. Daly, Daniel G. MacArthur, Menachem Fromer, Shaun Purcell

    出版 2016
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  16. 16
    Regional missense constraint improves variant deleteriousness prediction

    Regional missense constraint improves variant deleteriousness prediction 由 Kaitlin E. Samocha, Jack A. Kosmicki, Konrad J. Karczewski, Anne O’Donnell‐Luria, Emma Pierce‐Hoffman, Daniel G. MacArthur, Benjamin M. Neale, Mark J. Daly

    出版 2017
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  17. 17
    Variant interpretation using population databases: Lessons from gnomAD

    Variant interpretation using population databases: Lessons from gnomAD 由 Sanna Gudmundsson, Moriel Singer‐Berk, Nicholas A. Watts, William Phu, Julia K. Goodrich, Matthew Solomonson, Heidi L. Rehm, Daniel G. MacArthur, Anne O’Donnell‐Luria

    出版 2021
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  18. 18
    The ACTN3 R577X Polymorphism in East and West African Athletes

    The ACTN3 R577X Polymorphism in East and West African Athletes 由 Nan Yang, Daniel G. MacArthur, Bezabhe Wolde, Vincent Onywera, Michael K. Boit, SAU YIN MARY-ANN LAU, Richard H. Wilson, Robert A. Scott, Yannis Pitsiladis, Kathryn N. North

    出版 2007
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  19. 19
    Pathogenic <i>ASXL1</i> somatic variants in reference databases complicate germline variant interpretation for Bohring-Opitz Syndrome

    Pathogenic <i>ASXL1</i> somatic variants in reference databases complicate germline variant interpretation for Bohring-Opitz Syndrome 由 Colleen M. Carlston, Anne O’Donnell‐Luria, Hunter R. Underhill, Beryl B. Cummings, Ben Weisburd, Eric Vallabh Minikel, Daniel P. Birnbaum, Tatiana Tvrdik, Daniel G. MacArthur, Rong Mao

    出版 2017
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  20. 20
    STRetch: detecting and discovering pathogenic short tandem repeat expansions

    STRetch: detecting and discovering pathogenic short tandem repeat expansions 由 Harriet Dashnow, Monkol Lek, Belinda Phipson, Andreas Halman, Simon Sadedin, Andrew Lonsdale, Mark R. Davis, Phillipa J. Lamont, Joshua S. Clayton, Nigel G. Laing, Daniel G. MacArthur, Alicia Oshlack

    出版 2018
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