Hakutulokset - MacArthur, Daniel G.

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

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

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Challenges in clinical genomics Tekijä MacArthur, Daniel G

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

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

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

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The promise and reality of personal genomics Tekijä 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 Tekijä 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 Tekijä Jostins, Luke, Pickrell, Joseph K., MacArthur, Daniel G., Barrett, Jeffrey C.

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

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ClinVar data parsing Tekijä 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 Tekijä 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 Tekijä 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 Tekijä 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 Tekijä 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? Tekijä 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 Tekijä 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 Tekijä 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 Tekijä 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 Tekijä 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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