検索結果 - MacArthur, Daniel G.

Biology of Genomes: making sense of sequence 著者: MacArthur, Daniel G

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Sifting disease-causing signal from genomic noise 著者: MacArthur, Daniel G

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Challenges in clinical genomics 著者: MacArthur, Daniel G

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

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Publicly available data provide evidence against NR1H3 R415Q causing multiple sclerosis 著者: Minikel, Eric Vallabh, MacArthur, Daniel G.

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Human disease genomics: from variants to biology 著者: McCarthy, Mark I., MacArthur, Daniel G.

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The promise and reality of personal genomics 著者: Yngvadottir, Bryndis, MacArthur, Daniel G, Jin, Hanjun, Tyler-Smith, Chris

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Phylogenetic Analysis of Gene Structure and Alternative Splicing in α-Actinins 著者: Lek, Monkol, MacArthur, Daniel G., Yang, Nan, North, Kathryn N.

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Misuse of hierarchical linear models overstates the significance of a reported association between OXTR and prosociality 著者: Jostins, Luke, Pickrell, Joseph K., MacArthur, Daniel G., Barrett, Jeffrey C.

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

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ClinVar data parsing 著者: Zhang, Xiaolei, Minikel, Eric V., O'Donnell-Luria, Anne H., MacArthur, Daniel G., Ware, James S., Weisburd, Ben

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

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Gene inactivation and its implications for annotation in the era of personal genomics 著者: Balasubramanian, Suganthi, Habegger, Lukas, Frankish, Adam, MacArthur, Daniel G., Harte, Rachel, Tyler-Smith, Chris, Harrow, Jennifer, Gerstein, Mark

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Mutations in eIF4ENIF1 Are Associated With Primary Ovarian Insufficiency 著者: Kasippillai, Thushiga, MacArthur, Daniel G., Kirby, Andrew, Thomas, Brett, Lambalk, Cornelius B., Daly, Mark J., Welt, Corrine K.

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Whole exome sequencing identifies three recessive FIG4 mutations in an apparently dominant pedigree with Charcot-Marie-Tooth disease 著者: Menezes, Manoj P., Waddell, Leigh, Lenk, Guy M., Kaur, Simranpreet, MacArthur, Daniel G., Meisler, Miriam H., Clarke, Nigel F.

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

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

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

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

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

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