a novel approach for structural variant calling

Combining Data from Whole Genome Next-generation Sequencing and Optical Mapping

A novel joint pipeline integrating NGS raw data with optical mapping provided SV calls characterized by precise breakpoint positions and low false-positive rates, suggesting the advanced graph structure could have considerable utility in clinical practice.

American Society of Human Genetics 2018 Annual Meeting
October 16–20, 2018 – San Diego, CA

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