Now showing items 1-8 of 8

    • A high-resolution map of human evolutionary constraint using 29 mammals. 

      Lowe, Craig; Lindblad-Toh, Kerstin; Garber, Manuel; Zuk, Or; Lin, Michael F; Parker, Brian J; Washietl, Stefan; ... (86 authors) (Nature, 2011-10-12)
      The comparison of related genomes has emerged as a powerful lens for genome interpretation. Here we report the sequencing and comparative analysis of 29 eutherian genomes. We confirm that at least 5.5% of the human genome ...
    • Alternative splicing in multiple sclerosis and other autoimmune diseases. 

      Evsyukova, I; Garcia-Blanco, Mariano Agustin; Gregory, Simon Gray; Somarelli, Jason Andrew (RNA Biol, 2010-07)
      Alternative splicing is a general mechanism for regulating gene expression that affects the RNA products of more than 90% of human genes. Not surprisingly, alternative splicing is observed among gene products of metazoan ...
    • Essential role of beta-adrenergic receptor kinase 1 in cardiac development and function. 

      Bond, RA; Caron, MG; Giros, B; Jaber, M; Koch, Walter J; Lefkowitz, Robert J; Rockman, Howard A; ... (10 authors) (Proc Natl Acad Sci U S A, 1996-11-12)
      The beta-adrenergic receptor kinase 1 (beta ARK1) is a member of the G protein-coupled receptor kinase (GRK) family that mediates the agonist-dependent phosphorylation and desensitization of G protein-coupled receptors. ...
    • Genome-wide analyses of exonic copy number variants in a family-based study point to novel autism susceptibility genes. 

      Abrahams, BS; Alvarez Retuerto, AI; Bradfield, JP; Bucan, M; Buxbaum, JD; Cantor, RM; Cook, EH; ... (36 authors) (PLoS Genet, 2009-06)
      The genetics underlying the autism spectrum disorders (ASDs) is complex and remains poorly understood. Previous work has demonstrated an important role for structural variation in a subset of cases, but has lacked the resolution ...
    • Nutritional control of mRNA isoform expression during developmental arrest and recovery in C. elegans. 

      Maxwell, CS; Antoshechkin, I; Kurhanewicz, N; Belsky, JA; Baugh, LR (Genome Res, 2012-10)
      Nutrient availability profoundly influences gene expression. Many animal genes encode multiple transcript isoforms, yet the effect of nutrient availability on transcript isoform expression has not been studied in genome-wide ...
    • Screening the human exome: a comparison of whole genome and whole transcriptome sequencing. 

      Center for HIV/AIDS Vaccine Immunology (CHAVI); Cirulli Rogers, Elizabeth T; Ge, Dongliang; Goedert, JJ; Goldstein, David Benjamin; Heinzen, EL; Maia, JM; ... (10 authors) (Genome Biol, 2010)
      BACKGROUND: There is considerable interest in the development of methods to efficiently identify all coding variants present in large sample sets of humans. There are three approaches possible: whole-genome sequencing, ...
    • The characterization of twenty sequenced human genomes. 

      Campbell, CR; Cirulli Rogers, Elizabeth T; Dickson, SP; Fellay, J; Ge, Dongliang; Goedert, JJ; Goldstein, David Benjamin; ... (25 authors) (PLoS Genet, 2010-09-09)
      We present the analysis of twenty human genomes to evaluate the prospects for identifying rare functional variants that contribute to a phenotype of interest. We sequenced at high coverage ten "case" genomes from individuals ...
    • Tissue-specific genetic control of splicing: implications for the study of complex traits. 

      Cronin, KD; Denny, Thomas Norton; Gabriel, WN; Ge, Dongliang; Goldstein, David Benjamin; Heinzen, EL; Hulette, Christine Marie; ... (10 authors) (PLoS Biol, 2008-12-23)
      Numerous genome-wide screens for polymorphisms that influence gene expression have provided key insights into the genetic control of transcription. Despite this work, the relevance of specific polymorphisms to in vivo expression ...