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BSgenome.Hsapiens.UCSC.hg38 vs BSgenome.Hsapiens.NCBI.GRCh38

I am wondering what is the difference between this two reference package in R ? hg38 and GRCh38 should be same sequence assembly, right ? So what the point of creating this two reference package to access raw sequence.

r genome version assembly

It is the same question as "the difference between UCSC and NCBI genomes". Why don't you load them and compare?

1 answer

There are actually many different versions of hg38/GRCh38. This post by lh3 describes the human reference genome landscape very nicely: http://lh3.github.io/2017/11/13/which-human-reference-genome-to-use

Specific discrepancies:

  • Inclusion of ALT contigs.
  • Padding ALT contigs with long “N”s.
  • Inclusion of multi-placed sequences.
  • Not using the rCRS mitochondrial sequence.
  • Converting semi-ambiguous IUB codes to “N”.
  • Using accession numbers instead of chromosome names.
  • Not including unplaced and unlocalized contigs.

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