Whole Genome Sequencing

Overview

Provides a complete picture of the genome

Whole Genome Sequencing (WGS) reveals the sequence information of an entire organism, covering both coding and noncoding regions. WGS uses next-generation sequencing (NGS) technology and enables the identification of a variety of genetic variations, including single-nucleotide polymorphisms (SNPs), small insertions and deletions (indels), and copy number variations (CNVs). The insights into how these variants affect human health obtained through WGS has the potential to assess disease risk and responsiveness to drugs, and facilitate the development of personalized medicine approaches. 

 

Why Whole Genome Sequencing?

● Offers comprehensive genome coverage to investigate potentially actionable variants of all kinds that may be associated with various disease states

● Enables the sequencing of previously uncharacterized genomes  or the resequencing of  organisms with an available reference genome

● Offers genome-level comparative analysis, such as synteny and identification of orthologs and horizontal gene transfers 

 

How does WGS work?

Library preparation is a critical step in the WGS workflow.  DNA is first fragmented to the appropriate size, after which platform-specific adapters are added. PCR-free workflows are preferred for WGS, but in cases where input DNA is limited or is of poor quality, library amplification has to be performed. WGS library construction protocols typically include a size-selection step as libraries with a narrow fragment distribution are generally preferred. After sequencing, the sequence reads are aligned against a reference genome (reference-guided sequence assembly), or when no such reference is available, compared to each other and assembled into long contiguous segments (de novo sequencing).

Roche Sequencing Solutions offers a suite of products from sample preparation and QC to library quantification that enable you to construct high-quality  libraries, which is critical for obtaining superior genomic data. 

Available Products by Workflow
Workflow Step
Product
Benefits
Sample QC    
KAPA hgDNA Quantification & QC Kits
  • Reliable quantification and quality assessment of low-input or FFPE samples to optimize library construction yields and workflows
Library Preparation

KAPA HyperPrep Kits

KAPA HyperPlus Kits

KAPA HTP/LTP Library Preparation Kits

  • High-quality library construction in PCR-free workflows from lower input amounts in less than 3 hours
  • Low bias enzymatic fragmentation for construction of high-quality libraries from microbes with extreme genomic GC content
Library Amplification
KAPA Library Amplification Kit
  • Minimal amplification bias for improved sequencing coverage in WGS workflows that require library amplification
Library Quantification 
KAPA Library Quantification Kits
  • Accurate quantification of adapter-ligated molecules prior to sample pooling and cluster generation or template preparation for optimal