Cancer whole-genome sequencing (WGS) with next-generation sequencing (NGS) provides a base-by-base view of the unique mutations present in cancer tissues. It enables the discovery of novel cancer-associated variants, including single nucleotide variants (SNVs), copy number changes, insertions/deletions (indels), and structural variants. Many cancer-associated variants have been discovered using cancer genome sequencing. WGS also provides a comprehensive view of genomic changes in cancer DNA samples compared to normal DNA.
Cancer genomes typically contain unpredictable numbers of point mutations, fusions, and other aberrations. Since many of these alterations may be novel and not reside in coding regions, cancer WGS offers the most comprehensive approach for variant identification. In contrast, targeted approaches like exome sequencing may miss specific variants, such as those outside coding regions.
Illumina offers library preparation, sequencing, and data analysis options for cancer whole-genome sequencing and tumor-normal comparisons. Streamlined library prep workflows and flexible kit configurations accommodate multiple study designs.
A fast, integrated workflow for a wide range of applications, from human whole-genome sequencing to amplicons, plasmids, and microbial species.
A high-performing, fast, and integrated workflow for sensitive applications such as tumor-normal variant identification or human whole-genome sequencing.
The NovaSeq X Series offers vast application breadth, enabling data-intensive methods at production scale.
Scalable throughput and flexibility for virtually any genome, sequencing method, and scale of project.
Accurate, ultra-rapid analysis of NGS data from whole genomes, with apps for germline and somatic data. Available on-premise or in BaseSpace Sequence Hub.
The DRAGEN Somatic Pipeline aligns and variant calls Tumor-only or Tumor/Normal FASTQ files, outputting BAM(s) and a VCF.
A secure genomic data platform to operationalize informatics and drive scientific insights.
The Illumina genomics computing environment for NGS data analysis and management.
A growing library of curated genomic data to support researchers identifying disease mechanisms, drug targets, and prognostic or predictive biomarkers.
Through tumor-normal whole-genome sequencing, researchers can compare tumor mutations to a matched normal sample. Tumor-normal comparisons are crucial for identifying the somatic variants that act as driver mutations in cancer progression.
Illumina offers push-button tools to facilitate analysis of tumor-normal WGS data.
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This research article outlines a method that empirically defines regions of the genome with systematically high or low quality in a cohort of samples and its application for cancer variant calling in WGS data.
Read articleThis on-demand webinar discusses detecting mutations in non-coding regions and the effects of these alterations using functional genomics methods. This webinar also covers integration of DNA sequencing with other techniques, such as RNA sequencing and ATAC-seq, to evaluate transcriptomic and epigenomic features.
The Cancer Research Guide is a 40+ page comprehensive resource covering cancer research topics, sequencing methods, solutions, and more.
Side-by-side comparison shows WGS produced more accurate results in less time and at a similar cost than other standard techniques.
How whole-genome sequencing brings hope for awareness, education, and research on cancer of unknown primary (CUP).
Download the infographic to learn the basics of genome and transcriptome sequencing at a glance.
Watch the new in-lab quick start video to learn how to prepare high quality DNA and RNA samples for multiomic sequencing.
Learn how to link the causes and consequences of complex phenotypes through multiomics to enable discoveries that weren’t possible before.