It’s Time to Embrace Whole Genome Sequencing

There are approximately 7000 rare diseases that are known, and according to the Rare Disease Day Organization, they affect anywhere from three to six percent of the world’s population. Moreover, approximately seventy percent of rare diseases are genetic. Whole-genome sequencing holds the promise of better understanding the links between an individual’s genome and rare disease. Dr. Madhuri Hegde, Vice President and Chief Scientific Officer at PerkinElmer Genomics in Atlanta, highlights how their unique technology platform is being used in screening and diagnostics.

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