[ged] Another paper for jclub next Monday

[Adina Chuang]

Hey folks,

Here's the other article which Jason will be presenting...

ABSTRACT
Here we integrate the de novo assembly of an Asian and an African  
genome with the NCBI reference human genome, as a step toward  
constructing the human pan-genome. We identified ~5 Mb of novel  
sequences not present in the reference genome in each of these  
assemblies. Most novel sequences are individual or population  
specific, as revealed by their comparison to all available human DNA  
sequence and by PCR validation using the human genome diversity cell  
line panel. We found novel sequences present in patterns consistent  
with known human migration paths. Cross-species conservation analysis  
of predicted genes indicated that the novel sequences contain  
potentially functional coding regions. We estimate that a complete  
human pan-genome would contain ~19–40 Mb of novel sequence not present  
in the extant reference genome. The extensive amount of novel sequence  
contributing to the genetic variation of the pan-genome indicates the  
importance of using complete genome sequencing and de novo assembly.


  
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