Human Genome Reference characteristics
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6.8 years ago

Is there any good recent paper that describes all the characteristics of the Human Genome reference and its limitations?

genome • 1.3k views
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Don't know if there is (or will be a new paper) but the GRC site has lots of information about the current human genome build.

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6.8 years ago
Benn 8.3k

Useful paper about the limitations:

Rosenfeld JA, Mason CE, Smith TM (2012) Limitations of the Human Reference Genome for Personalized Genomics. PLoS ONE 7(7): e40294. doi:10.1371/journal.pone.0040294

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