xie186 / miscellaneous_note

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Reference genome #15

Open xie186 opened 5 years ago

xie186 commented 5 years ago

Yes, they are the same version of the human genome. GRCh Build 38 stands for “Genome Reference Consortium Human Reference 38” and it is the primary genome assembly in GenBank; hg38 is the ID used for GRCh Build 38 in the context of the UCSC Genome Browser.

The hg19 build is a single representation of multiple genomes. The GRCh Build 38 build provides alternate sequences (“alt_sequences”) for some genomic regions for which their variability prevents adequate representation by one single reference. There are some other differences such as changes in the centromere representation, the mitochondrial genome, updated sequences and an “Analysis Set” (FASTA format sequences in a package convenient for use by various Next Generation Sequence read alignment pipelines ).