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Genetic Linkage

Limits of Genome Sequencing Not a Surprise

The news is being trumpeted everywhere – whole genome sequencing won’t help the average person predict common illnesses.

This isn’t exactly astonishing to anyone who has taken a genetics course, but the Johns Hopkins team, in Science Translational Medicine, provides elegant evidence to back up the long-held idea that the so-called “complex," common diseases result from so many intertwined inherited as well as environmental threads that using a DNA sequence as a crystal ball just won’t work – at least until more data accumulate. Read More 
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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 
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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 
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23andMe's Exome Sequencing and the Tenth Edition of My Textbook

It’s been a strange week. The tenth edition of my human genetics textbook was published, just as 23andMe announced that they now offer whole exome sequencing, for $999. Read More 
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