Hopkins Researchers Show Exome Sequencing Provides New Route to Disease Genes | GenomeWeb

Based on exon resequencing data from a single cancer patient, researchers at Johns Hopkins University have discovered a new gene that, when mutated, predisposes its carrier to hereditary pancreatic cancer.

Maybe more important than the gene itself, which only explains a fraction of hereditary pancreatic cancer, is the sequencing-based approach the researchers used to pinpoint it, which they believe will be useful for finding new disease genes — especially once the cost of sequencing drops further.

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