Human Genome Reference characteristics

Question

[aggelosgag80]

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

[GenoMax]

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.

Answer 1

[Benn]

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