Human Whole Genome Sequencing

Advancing our understanding of human biology

The first draft of the human euchromatic genome (exclusive of centromeres and telomeres), generated with first-generation sequencing methods, was published in 2001.1  The Human Genome Project was the largest collaborative international biology project of its time. It took 13 years to complete, involved 20 institutions and cost approximately $3 billion2. The latest improvements in next-generation sequencing (NGS) technology, embodied in the NovaSeq™ 6000 sequencer (Illumina®), is expected to deliver 48 fully sequenced human genomes in 44 hours of sequencing time3, with future improvements promising to reduce the cost of sequencing a human genome to $1004. These advances have fueled investments in population-based human whole-genome sequencing (WGS) worldwide. Human WGS data has the potential to support the discovery of new biomarkers and drug targets, and advance our understanding of human diseases, fitness and longevity.

Routine human WGS requires robust and streamlined sample preparation protocols that can be tailored to ensure optimal sequencing results on production-scale Illumina® HiSeq X® and NovaSeq™ sequencers. Roche Sample Prep Solutions offer an integrated approach to sample preparation, addressing all of the steps required to convert a sample to a sequencing-ready library. From sample collection to library quantification, we offer sample prep solutions for different sample types and sequencing applications that are proven, simple and complete.

Human WGS sample prep challenges and solutions

Learn more about the challenges of producing high-quality libraries for human WGS on production-scale Illumina sequencers. Find out how these are addressed with a flexible, streamlined, complete sample prep solution from Roche, which allows for efficient and robust library construction in PCR-free workflows.

Whole-genome sequencing of other complex genomes

Many of the challenges associated with human WGS also apply to the sequencing of other complex genomes. Roche Sample Prep Solutions have also been successfully employed to facilitate the WGS of reptiles5 mammals6 and plants.7,8

Promotional Offer: Request a Sample– One Library Prep Kit plus KAPA Pure Beads and 50% off of additional workflow products*

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Offer valid for 8-reaction KAPA HyperPrep or HyperPlus Kits, KAPA Pure Beads (5 mL), KAPA Dual-Indexed Adapter Kits, KAPA Library Quantification and QC Kits, and Library Quantification Kits. Limit one redemption per lab; new US-based customers only. Offer expires October 31, 2018.

Data on file. *All MagNA Pure 24 and MagNA Pure 96 Kits, Consumables, and Accessories are for in vitro diagnostic unless otherwise noted.

**For Research Use Only. Not for use in diagnostic procedures.
KAPA, LIGHTCYCLER, MAGNA PURE, and SEQCAP are trademarks of Roche. All other product names and trademarks are the property of their respective owners. 

Workflow

  • Sequencing

    DNA Extraction

  • Library Preparation

    DNA Library Preparation

  • Library Quantification

    Library Quantification

Available Products by Workflow

Sequencing

DNA Extraction

MagNA Pure 24 and MagNA Pure 96 Systems*

  • Reliable DNA extraction from as little as 200 μL whole blood
  • Scalable extraction for low-, mid-, or high-throughput levels
  • Optimized protocols for sequencing workflows

*All MagNA Pure 24 and MagNA Pure 96 Kits, Consumables, and Accessories are for in vitro diagnostic unless otherwise noted.

Library Construction

DNA Library Preparation

KAPA HyperPrep Library Preparation Kits

  • PCR-free workflows to minimize bias
  • Effective with input DNA of varied quality and amounts
  • Compatible with mechanically sheared DNA
  • Tunable size selection for desired insert size

Additional accessories:

  • KAPA Dual-Indexed Adapters (96 adapters at 15 µM)
  • KAPA Pure Beads for DNA purification and size selection
Library Quantification

Library Quantification

KAPA Library Quantification Kits

  • Accurate quantification of sequencing-competent libraries
  • Better accuracy when pooling libraries
  • Automation-friendly workflow for increased throughput

Roche LightCycler® 96 and LightCycler® 480 Instruments**

  • Scalable instrument options Dependable temperature accuracy and homogeneity
  • Ideal for use with KAPA Library Quantification Kits

Request an Evaluation Sample

**For Research Use Only. Not for use in diagnostic procedures.

References:
  1. Venter, J.C. et al. The Sequence of the Human Genome. Science. 2001; 291:1304. doi:10.1126/science.105804.
  2. https://www.livescience.com/28708-human-genome-project-anniversary.html. Accessed 20 March 2018.
  3. https://www.illumina.com Accessed 20 March 2018.
  4. https://www.forbes.com/sites/matthewherper/2017/01/09/illumina-promises-to-sequence-human-genome-for-100-but-not-quite-yet/#103af531386d. Accessed 20 March 2018.
  5. Tollis, M. et al. The Agassiz’s desert tortoise genome provides a resource for the conservation of a threatened species. PLOS One. 2017. doi: 0.1371/journal.pone.0177708.
  6. Srivastava, A. et al. Genomes of the Mouse Collaborative Cross. Genetics. 2017;206, 537. doi: 10.1534/genetics.116.198838.
  7. Cruz, F. et al. Genome sequence of the olive tree, Olea europaea. GigaScience. 2016;5:29. doi:10.1186/s13742-016-0134-5.
  8. Reig-Valiente, J.L. et al. Genetic Diversity and Population Structure of Rice Varieties Cultivated in Temperate Regions. Rice 2016;9:58. doi:10.1186/s12284-016-0130-5.