Genomics Articles

Recent genomic discoveries and advances

Genomics articles highlighting breakthroughs and advances in bioinformatics and clinical research from Illumina scientists and thought leaders

Discoveries by Illumina Scientists

The Challenge of Somatic Variant Detection Accuracy in Liquid Biopsy Addressed by the DRAGEN Platform with UMIs

Illumina scientists present a method using unique molecular identifiers (UMIs) and the power of the DRAGEN platform to reduce noise and errors to enable accurate somatic variant calling in ctDNA.

Building the ultimate RNA “body map” using comprehensive, deep transcriptome analysis

Four complementary RNA-Seq methods using hundreds of cell types and tissues produced the most comprehensive atlas of the human transcriptome to date.

Population-based metrics to stratify somatic variant calling performance

Sequencing quality is not uniform across the genome and impacts somatic variants calling. Here we quantify the performance gap between high-and low-quality regions.