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A high-quality human reference panel reveals the complexity and distribution of genomic structural variants

Hehir-Kwa, Jayne Y et al.
eScholarship · Papers · License: CC BY
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31-biological-sciences-for-202042-health-sciences-for-2020
Structural variation (SV) represents a major source of differences between individual human genomes and has been linked to disease phenotypes. However, the majority of studies provide neither a global view of the full spectrum of these variants nor integrate them into reference panels of genetic var
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