Tag: Heme

Performance Comparison of the Illumina MiSeq i100 with Established Instruments for Amplicon-Based Somatic and Liquid Biopsy Sequencing Panels

Pillar benchmarked seven oncoReveal® amplicon NGS panels — BRCA1/BRCA2 Somatic with CNV, Multi-Cancer v4 with CNV, Myeloid, Essential MPN, Nexus 21 Gene, Rapid AML, and Essential LBx — on Illumina’s new MiSeq i100 against the legacy MiSeq and NextSeq 550. Fifty-nine paired samples, including SeraCare and Horizon Discovery reference standards, cancer cell line DNA, and biobanked clinical specimens, were run from identical libraries across six sequencing runs. Every expected true-positive variant was detected on the i100 with no false positives, confirming that the portfolio transfers cleanly to the new platform.

Detecting Ultra-Low Frequency ESR1 Mutations in Liquid Biopsy Samples Using the oncoReveal Essential LBx Panel

The oncoReveal® Essential LBx Panel is a single-tube, 34-gene amplicon-based NGS liquid biopsy assay built on SLIMamp® chemistry. Pillar tested it on Seraseq® ctDNA ESR1 reference standards diluted to 0.05% variant allele frequency (VAF) from 5–30 ng of plasma cell-free DNA (cfDNA), sequenced on the Illumina NextSeq 550 and analyzed with PiVAT® software. It detected these endocrine-therapy-resistance mutations in HR-positive breast cancer with 98.4% PPA at 0.1% VAF and 100% NPA — no molecular barcodes (UMIs) required.

Comparative Performance of Targeted and Comprehensive Somatic NGS Panels in Paired Tumor and Liquid Biopsy Samples from a Prospective Solid Tumor Cohort

Eurofins Viracor Biopharma, with Illumina and Pillar, prospectively enrolled 61 patients with advanced solid tumors and tested matched FFPE tissue and plasma using Pillar’s amplicon panels (oncoReveal® Multi-Cancer, 60 genes, tissue; Core LBx, 104 genes, ctDNA) alongside Illumina’s TSO500 hybrid-capture panels (523 genes). The comprehensive panel showed higher tissue–plasma concordance, largely because its gene content is harmonized across specimen types while the Pillar tissue and liquid biopsy panels target different gene sets. Even so, 58.0% of Pillar’s concordant calls were clinically significant Tier I/II variants — the highest such proportion in the study.

Race Against the Clock: Validating a Rapid NGS Myeloid Panel

The Hospital of the University of Pennsylvania built its Hematological Expedited Sequencing (HEXS) assay on Pillar’s oncoReveal® Myeloid Panel, consolidating 58 myeloid neoplasm genes into a single NGS test to replace multiple send-outs for acute leukemia subtyping. Validation used 61 positive and 18 negative bone marrow, peripheral blood, and bone core specimens covering SNVs, indels, and FLT3 internal tandem duplications, on both the MiSeq and MiSeq i100 with PiVAT® variant calling. HEXS reached 99.5–100% sensitivity across variant types and enables 3–5 day myeloid NGS reporting, with the i100 cutting sequencing time by 17 hours.