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 billion.2 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 time,3 with future improvements promising to reduce the cost of sequencing a human genome to $100.4 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 reptiles,5 mammals6 and plants.7,8


  1. Venter, J.C. et al. The Sequence of the Human Genome. Science. 2001; 291:1304. doi:10.1126/science.105804.
  2. Accessed 20 March 2018.
  3. Accessed 20 March 2018.
  4. 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.