Topics

1. Topics • Complement Factor H and age-related macular degeneration • A common haplotype in the complement regulatory gene factor H (HF1/CFH) predisposes individuals to age-related macular degeneration. Hageman, 2005 • Complement Factor H Polymorphism in Age-Related Macular Degeneration, Kline, 2005. • Tilling arrays (Two papers) • Biological function of unannotated transcription during the early development of Drosophila melanogaster, Manak, 2006. • Identification and analysis of functional elements in 1% of the human genome by the ENCODE pilot project, 2007. • Mutation Screening, Prioritization, prediction, or agregating • Prioritizing Regions of Candidate Genes forEfficient Mutation Screening, Braun, 2006 • TRANSCRIPT ANNOTATION PRIORITIZATION AND SCREENING SYSTEM (TRAPSS) FOR MUTATION SCREENING, O'Leary. • Leber's Congenital Amaurosis (LCA) and Gene Therapy • Safety and Efficacy of Gene Transfer for Leber's Congenital Amaurosis, Maguire, 2008 • Long-Term Restoration of Rod and Cone Vision by Single Dose rAAV-Mediated Gene Transfer to the Retina in a Canine Model of Childhood Blindness, Acland, 2005 • Pseudogene Prediction/Finding • Genome-Wide Identification of PseudogenesCapable of Disease-Causing Gene Conversion, Bischoff, 2006 • eQTL Mapping • Regulation of gene expression in the mammalian eye and its relevance to eye disease, Scheetz, 2007 • Sequence Capture and/or Pyrophosphate sequencing and/or 454 • The impact of next-generation sequencing technology on genetics, Mardis, 2008 • BBS • Comparative Genomic Analysis Identifies an ADP-Ribosylation Factor-likeGene as the Cause of Bardet-Biedl Syndrome (BBS3), Chiang, 2004. • Copy Number Variations • Epigenetic prediction • Protein folding • Allelic variation of Spectrum • Methylation sites, prediction, or cataloging