instagram pinterest linkedin facebook twitter goodreads

Genetic Linkage

Gavin's Story: Whole Exome Sequencing Finds Mystery Mutation

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 
2 Comments
Post a comment

Personal Genome Sequencing: Too Much Information?

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 
2 Comments
Post a comment