Analytical validation of germline small variant detection using long-read HiFi genome sequencing.

Abstract excerpt

Long-read sequencing has the capacity to interrogate difficult genomic regions and phase variants; however, short-read sequencing is more commonly implemented for clinical testing. Given the advances in long-read HiFi sequencing chemistry and variant calling, we analytically validated this technology for small variant detection (single nucleotide variants, insertions/deletions; SNVs/indels; <50 bp). HiFi genome...

Topics

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• Genome, Human
• Genomics
• Germ-Line Mutation
• High-Throughput Nucleotide Sequencing
• INDEL Mutation