July 19, 2019  |  

Whole genome?

Authors: Editorial

The reference human genome assembly is remarkable in its completeness and usefulness in research. However, the range of allelic variation in the human population is not well described by a haploid assembly with a profusion of alternative loci. Homozygous regions and the use of multiple sequencing technologies increasingly have roles in strategies for identifying regulatory and trait-associated variation.

Journal: Nature genetics
DOI: 10.1038/ng.3397
Year: 2015

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