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Implications of Genetic Distance to Reference and De Novo Genome Assembly for Clinical Genomics in Africans

2020-09-27 genetic and genomic medicine Title + abstract only
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In clinical genomics, variant calling from short-read sequencing data typically relies on a pan-genomic, universal human reference sequence. A major limitation of this approach is that the number of reads that incorrectly map or fail to map increase as the reads diverge from the reference sequence. In the context of genome sequencing of genetically diverse Africans, we investigate the advantages and disadvantages of using a de novo assembly of the read data as the reference sequence in single sa...

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