Article

Human Reference Genome and a High Contiguity Ethnic Genome AK1

2019-10-07

Abstract excerpt

Studies have shown that the current human reference genome (GRCh38) might miss information for some populations, but “exactly what we miss” is still elusive due to the lower contiguity of non-reference genomes. We juxtaposed the GRCh38 with high contiguity genome assemblies, AK1, to show that ∼1.8% (∼53.4 Mbp) of AK1 sequences missed in GRCh38 with ∼0.76% (∼22.2 Mbp) of ectopic chromosomes. The unique AK1 sequence...

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Literature Corpus work: 893df485-ce20-5a7f-92e3-7198e6ce8440
DOI: 10.1101/795807

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