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Great questions! We all have our own ideas about how to push the needle past 30-40%. I absolutely believe that for many diseases, larger indels and structural variants are being missed and that improving our ability to detect them will push us well beyond 50%. I also believe that non-coding variation has a role to play, though like most people, I believe it is more commonly going to be in the realm of risk modification rather than in true Mendelian disease causation. Our undiagnosed diseases program manages a solve rate of 30% even given that a significant number of cases have already had non-informative clinical exome sequencing. So that is encouraging. Finally, I believe that the environment including infectious organisms and their interplay with our immune system is a critical and an underlooked area. Genomic technology can also be very powerful here through T and B cell repertoire sequencing. Modeling can even take us to estimates of likely stimulating antigens The future is exciting!


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