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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

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.

Circulating RNA Sequencing Enables Noninvasive Monitoring of Dynamic Changes in Human Health

Illumina researchers developed a robust workflow for sequencing RNA in the blood, obtaining a noninvasive snapshot of whole-body health with the potential of transforming the future of diagnostics.