Germline mutations, also called hereditary mutations, are passed on from parents to offspring. Inherited germline mutations play an important role in cancer risk and susceptibility. Knowledge of these heritable mutations can lead to the development of preventive measures to reduce the likelihood of developing cancer.
Inherited mutations associated with cancer predisposition and risk can be analyzed through various approaches, including microarrays and next-generation sequencing (NGS).
Microarrays are the most economical method for studying germline mutations in cancer. With arrays, hundreds of thousands of single nucleotide polymorphisms (SNPs) can be studied across large sample sets simultaneously. Learn more about OncoArray.Read Article
NGS can be used to sequence many samples for germline mutations. Whole-genome sequencing provides a complete picture of germline mutations across the cancer genome. Targeted sequencing studies assess only the genes that have known associations with cancer predisposition, reducing sequencing costs and data analysis burdens.View Publication
Germline mutations that might predispose individuals to cancer can be studied through various approaches, ranging from genome-wide association studies (GWAS) to whole-genome and targeted sequencing approaches.
Illumina products enable researchers to focus on specific genes of interest using predesigned, validated gene panels or developing their own custom panels.
Click on the below to view products for each workflow step.
Comprehensive, high-density array for interrogating ~500,000 genome-wide SNPs associated with cancer risk.
Design-your-own custom genotyping panels for interrogation of up to 1 million markers (SNPs, indels, CNVs).
Simplest and most affordable solution for low-throughput targeted sequencing.MiSeq System
The MiSeq sequencer enables interrogation of a wider range of mutations than is possible with traditional technologies.MiSeqDx System
First FDA-cleared in vitro diagnostic NGS system designed specifically for the clinical laboratory environment. Also runs in research mode.NextSeq 550 System
High-throughput sequencing and BeadChip array scanning on a single instrument.
High throughput and low cost for production-scale genomics.NovaSeq 6000 System
Scalable throughput and flexibility for virtually any genome, sequencing method, and scale of project.TruSight Cancer Sequencing Panel
Expert-defined content targeting 94 genes and 284 SNPs associated with a predisposition towards various cancers.AmpliSeq for Illumina BRCA Panel
Targeted research panel investigating somatic and germline variants in BRCA1 and BRCA2.
A powerful variant analysis and reporting tool that enables researchers to identify and classify disease-relevant variants quickly, and then report significant findings in a structured format.Illumina DRAGEN Bio-IT Platform
The Illumina DRAGEN (Dynamic Read Analysis for GENomics) Bio-IT Platform provides ultra-rapid secondary analysis of NGS data. A variety of apps are available, including one for germline variant analysis.
Simple, secure, flexible NGS data analysis and management.