Transcript Introduction to Genetics and Genomics

Topics
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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 for Efficient 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 Pseudogenes Capable 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
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Comparative Genomic Analysis Identifies an ADP-Ribosylation Factor-like Gene 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
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