June 1, 2021

Structural variant detection with low-coverage PacBio sequencing

Author(s): Kingan, S. and Wenger A.

Structural variants (genomic differences =50 base pairs) contribute to the evolution of organisms traits and human disease. Most structural variants (SVs) are too small to detect with array comparative genomic hybridization but too large to reliably discover with short-read DNA sequencing. Recent studies in human genomes show that PacBio SMRT Sequencing sensitively detects structural variants.

Organization: PacBio
Year: 2017

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