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Ricki Lewis

Genetic Linkage

Gavin's Story: Whole Exome Sequencing Finds Mystery Mutation

November 19, 2011
Tags: whole exome sequencing, human genome, Gavin Stevens, Ming Qi, Leber congenital amaurosis, Foundation for Retinal Research, Knome, Complete Genomics, John Chiang, CEP 290, LRAT, CUBY20, Beijing Genomics Institute, DNA, rare disease
In a hotel ballroom on the campus of the University of Pennsylvania on a midsummer Saturday in 2010, an unusual roll call was under way at the Family Conference for the
Foundation for Retinal Research. Betsy Brint, co-head of organization, was calling out what sounded like code words – CEP290,  Read More 
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Personal Genome Sequencing: Too Much Information?

October 18, 2011
Tags: whole exome sequencing, human genome, DNA, Michael Hayden, James Watson, Han G. Brunner, International Congress of Human Genetics, Complete Genomics, Radoje Drmanac, Segolene Ayme, Joris Veltman, Luanne Hudgins, OrphanNet, rare diseases, Huntington's disease, BRCA1, Lynch syndrome, incidentaloma, Leslie Biesecker, National Human Genome Research Institute, Personal Genome Sequencing: Too Much Information?, ICHG2011
October 11-15, 6,200 researchers and clinicians met in Montreal for the 12th International Congress of Human Genetics. After my brain recovered from the long days of meetings, one panel discussion emerged as my favorite: what I thought was going to be a dull comparison of DNA sequencing technologies turned out to be a spirited look at  Read More 
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