In this renewal the Berkeley PGA proposes to continue to accelerate heart, lung and blood (HL&B) research through facilitating the application of comparative genomics resources and approaches to the identification of biomedically relevant features in the human genome. Our production efforts will focus on DNA sequence generation, and the development of user friendly analysis tools and databases. In addition, through education programs and biological demonstration projects by the Berkeley PGA we will encourage biomedical investigators to exploit the Berkeley PGA's genomic resources to achieve those goals. These activities will include: 1) sequencing for HL&B investigators biomedically relevant regions in the genomes of organisms not being sequenced by the public sequencing efforts, 2) the development of user friendly comparative genomic tools and databases focused on aiding biomedical investigators, 3) a multifaceted education program targeted at training HL&B researchers in the use of genomic informatics, 4) """"""""high-throughput"""""""" in vivo assessment of the function of sequences in the human genome identified by cross-species sequence comparisons in genetically engineered mice and Ciona intestinalis and 5) clinical resequencing projects to examine a large set of candidate genes potentially causing sporadic HI&B disorders.
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| Visel, Axel; Zhu, Yiwen; May, Dalit et al. (2010) Targeted deletion of the 9p21 non-coding coronary artery disease risk interval in mice. Nature 464:409-12 |
| Gotea, Valer; Visel, Axel; Westlund, John M et al. (2010) Homotypic clusters of transcription factor binding sites are a key component of human promoters and enhancers. Genome Res 20:565-77 |
| Visel, Axel; Akiyama, Jennifer A; Shoukry, Malak et al. (2009) Functional autonomy of distant-acting human enhancers. Genomics 93:509-13 |
| Visel, Axel; Rubin, Edward M; Pennacchio, Len A (2009) Genomic views of distant-acting enhancers. Nature 461:199-205 |
| Slavotinek, A M; Moshrefi, A; Lopez Jiminez, N et al. (2009) Sequence variants in the HLX gene at chromosome 1q41-1q42 in patients with diaphragmatic hernia. Clin Genet 75:429-39 |
| Visel, Axel; Prabhakar, Shyam; Akiyama, Jennifer A et al. (2008) Ultraconservation identifies a small subset of extremely constrained developmental enhancers. Nat Genet 40:158-60 |
| Romeo, Stefano; Kozlitina, Julia; Xing, Chao et al. (2008) Genetic variation in PNPLA3 confers susceptibility to nonalcoholic fatty liver disease. Nat Genet 40:1461-5 |
| Prabhakar, Shyam; Visel, Axel; Akiyama, Jennifer A et al. (2008) Human-specific gain of function in a developmental enhancer. Science 321:1346-50 |
| Romeo, Stefano; Pennacchio, Len A; Fu, Yunxin et al. (2007) Population-based resequencing of ANGPTL4 uncovers variations that reduce triglycerides and increase HDL. Nat Genet 39:513-6 |
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