I would love to know what you think of emerging technologies such a Optical Mapping (Bionano) to help further the understanding of Diseases given their "observed" view of the genome and large SV's. It seems like a great complement to existing techniques and might have an important role for Precision medicine
Asked by Anonymous
I am a huge fan of technology and I have applauded the transformative power of existing technologies for scientific discovery and case solving. However, there are many areas of the genome where standard short reads fall short. In the blog post I discuss a few and posit that alternative approaches including long read sequencing will help shine complementary light on these “dark areas of the genome”. I do think they will advance our scientific and medical discovery beyond where we are today. As always, a more powerful microscope lets us see much much further. For a deeper dive, take a look at my review from last year (Nature Reviews Genetics 17, 507–522, 2016).
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