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Beyond the reference genome

Both strands of a diploid genome can now be efficiently sequenced de novo, unlocking the diversity of the human gene pool.

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Figure 1: Comparison of simplified fosmid sequencing workflows.

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Correspondence to Carlos D Bustamante.

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Competing interests

C.D.B. is a founder of Identify Genomics. He is also on the scientific advisory board of Identify, Etalon, Personalis and Ancestry.com. He is a former member of the board of InVitae. None of these organizations played a role in the design or conduct of the work presented here.

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Bustamante, C., Rasmussen, M. Beyond the reference genome. Nat Biotechnol 33, 605–606 (2015). https://doi.org/10.1038/nbt.3249

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