Using NGS to study rare undiagnosed genetic disease
Whole-exome and transcriptome sequencing prove beneficial in uncovering mutations and pathways associated with rare disease.
Illumina provides integrated genomic workflow solutions designed to support genetic disease research across discovery, characterization, and interpretation. By combining trusted sequencing technologies with scalable informatics, Illumina helps researchers generate high-quality genomic data and translate it into meaningful biological insight with efficiency and confidence.
As access to whole-genome and whole-exome sequencing continues to expand, genetic disease researchers require sequencing and informatics strategies that are streamlined, scalable, and flexible. Illumina’s integrated ecosystem addresses these needs by aligning library preparation, sequencing, and data analysis within a cohesive workflow framework that supports evolving research demands.
