De novogenome assemblies from two Indigenous Americans from Arizona identify new polymorphisms in non-reference sequences
Çiğdem Köroğlu,
Peng Chen,
Michael Traurig
et al.
Abstract:There is a collective push to diversify human genetic studies by including underrepresented populations. However, analyzing DNA sequence reads involves the initial step of aligning the reads to the GRCh38/hg38 reference genome which is inadequate for non-European ancestries. To help address this issue, we created a modified hg38 reference map using de novo sequence assemblies from Indigenous Americans living in Arizona (IAZ). Using HiFi SMRT long-read sequencing technology, we generated de novo genome assembli… Show more
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