June 1, 2021

Detecting pathogenic structural variants with low-coverage PacBio sequencing.

Author(s): Hickey, L. and Wenger, A. M. and Baybayan, P. and Peluso, P. and Korlach, J.

Though a role for structural variants in human disease has long been recognized, it has remained difficult to identify intermediate-sized variants (50 bp to 5 kb), which are too small to detect with array comparative genomic hybridization, but too large to reliably discover with short-read DNA sequencing. Recent studies have demonstrated that PacBio Single Molecule, Real-Time (SMRT) sequencing fills this technology gap. SMRT sequencing detects tens of thousands of structural variants in the human genome, approximately five times the sensitivity of short-read DNA sequencing.

Organization: PacBio
Year: 2017

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