Population-scale discovery of structural variants with PacBio SMRT Sequencing

Author(s): Vogelsang, R. and Wenger, A. and Hickey, L and Töpfer, A. and Li, Y. and Korlach, J. and Hunkapiller, M.

Structural variants (SVs) – genomic differences =50 base pairs – are few by count compared to single nucleotide variants (SNVs) and indels but include most of the base pairs that differ between two humans.

Organization: PacBio
Year: 2018

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