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Glenn Nichols, surrounded by his hospice team. The author is in yellow.

Genetic Linkage

10 Things Exome Sequencing Can't Do -- But Why It's Still Powerful

May 20, 2012

Tags: next generation sequencing, exome sequencing, Ambry Genetics, introns, triplet repeat disorders, Huntington disease, fragile X syndrome

Clinically relevant information in DNA hides in repeats, controls, and "junk" -- not just the protein-encoding exome.
10 Things Exome Sequencing Can’t Do – But Why It’s Still Powerful

Sequencing of the exome – the protein-encoding parts of all the genes – is beginning to dominate the genetics journals as well as headlines, thanks to its ability to diagnose the formerly undiagnosable.

The 2011
Pulitzer Prize in Explanatory Reporting
honored the Milwaukee-Wisconsin Journal Sentinel’s coverage of a 4-year-old whose intestinal disorder was finally diagnosed after sequencing his exome. (more…)

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Many challenging questions to stimulate thought and discussion.
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An ideal starting point for anyone who wants to know more about genes, DNA, genomes, and the genetic ties that bind us all.

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