2023 ACMG Annual Clinical Genetics Meeting Digital Edition: Poster Gallery-Hybridization-Based Target Enrichment with Illumina Complete Long-Read Assay

Pdf Summary

The document summarizes the benefits and features of the Illumina Complete Long-Read (ICLR) assay, a long-read sequencing technology developed by Illumina. The ICLR assay offers a comprehensive and accurate representation of the genome, with a single-day workflow that is automation-compatible and scalable. It requires only 50ng of DNA input and generates contiguous long-read sequences with an N50 of 5-7kb.<br /><br />The document highlights the capability of ICLR to achieve exceptional haplotype-resolved genome coverage, with comprehensive recall and precision for genetic variants when combined with Illumina's Standard PCR-free data. It also emphasizes the compatibility of ICLR with hybridization-based target enrichment, allowing for a targeted approach to clinically relevant regions.<br /><br />The study presented in the document shows that target enrichment with ICLR achieves equivalent variant calling and phasing performance to ICLR whole-genome sequencing, providing additional flexibility and scalability to target challenging regions. The Illumina Complete Long-Read Prep with Target Enrichment is planned to launch in the second half of 2023.<br /><br />The document also provides information about the 2023 Illumina Complete Long-Reads Product Roadmap, highlighting the highly accurate long reads generated by ICLR and its low DNA input requirement. It mentions the robust and flexible nature of ICLR prep, which can handle a wide variety of DNA inputs and extraction methods.<br /><br />Overall, the document showcases the effectiveness and versatility of Illumina Complete Long-Read assay in genetic research and analysis, emphasizing its accuracy, scalability, and compatibility with target enrichment approaches.

Asset Subtitle

Presenting Author - Tina Huang, MA; Co-Author - Tiffany Truong, BA; Co-Author - Yujue Chen, PhD; Co-Author - Gary Schroth, PhD; Co-Author - Feng Chen, PhD;

Meta Tag

Genome sequencing

Sequencing

Co-Author Tiffany Truong, BA

Co-Author Yujue Chen, PhD

Co-Author Gary Schroth, PhD

Co-Author Feng Chen, PhD

Presenting Author Tina Huang, MA

Keywords

ICLR assay

long-read sequencing

genome representation

workflow

scalable

50ng DNA input

contiguous long-read sequences

hybridization-based target enrichment

variant calling

genetic research