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

Technical spotlight: Detecting small- and medium-length copy number variants by whole-genome sequencing

Historically, detecting different sizes of genetic variants has required using multiple different tests. By combining Illumina WGS with secondary analysis algorithms built into the DRAGEN Bio-IT Platform, researchers can achieve high-sensitivity detection of all these different variant types using a mixture of methods described here.

Inside DRAGEN and what enables efficient secondary analysis at scale

The Illumina DRAGEN secondary analysis pipeline has been established as a trusted, comprehensive, accurate, and fast solution that helps NGS users retrieve maximal information out of their data. DRAGEN analysis onboard the NovaSeq X offers a unique, cost-effective way for users to analyze the enormous amount of data generated.

XLEAP-SBS chemistry enables Q40 and above data quality on NovaSeq X and NextSeq 1000/2000

In this article, we highlight the improvements to sequencing and calibration workflows that enable the NovaSeq X to deliver 85% of bases in the highest quality bin (Q40) with excellent correlation to empirical accuracy; the use of PCR-free library preps in the Q-score calibration process; and the data management and cost benefits of quantizing the Q scores to three bins.