Research Area

Human Genetics


Reviews genetic variations and their association with diseases

The field of human genetics rapidly accelerated with the mapping of the human genome in 2001 and the subsequent completion of the euchromatic sequence in 2004.  With ~3 billion base pairs and 20-25 thousand protein-encoding genes that were published, these studies established a solid foundation for biomedical research.  Next-generation sequencing (NGS) techniques and their advancements have reshaped and pushed the boundaries of the way human genetics research is conducted. NGS has also revolutionized risk assessment for diseases and has paved the way for the development of personalized treatment options.

NGS provides researchers the ability to study the sequence of an entire genome (whole genome sequencing), target just the coding regions (whole exome sequencing) or to even target specific regions of the genome (targeted sequencing). Genetic variations and risk factors can be assessed with unparalleled precision using specialized NGS techniques such as clonal amplification of single DNA molecules.

Roche Sequencing Solutions offers a broad portfolio of target enrichment and library preparation products for NGS applications.

Workflow Step
Sample QC

Reliable quantification and quality assessment of low-input or FFPE samples to optimize library construction yields and workflows

Target Enrichment

KAPA HyperCap

KAPA HyperExome

KAPA HyperChoice (human designs)

KAPA HyperExplore (non-human designs)

KAPA HyperCap Oncology Panel

KAPA HyperCap Heredity Panel


  • Reduce sequencing costs and save time with superior capture uniformity
  • Demonstrated design expertise, 10+ years of experience
  • Reliably enrich challenging, previously inaccessible genomic regions


KAPA HyperPETE Choice / Explore (human designs)

KAPA HyperPETE Choice / Explore RNA (human designs)

KAPA HyperPETE Pan Cancer Panel

KAPA HyperPETE Hot Spot Panel

KAPA HyperPETE Hereditary Oncology Panel

KAPA HyperPETE Lung Cancer Fusion Panel

Detect all major somatic variants in cfDNA, FFPE, and RNA samples, including SNVs, short indels, CNVs, MSI, and fusion transcripts (novel and known)
KAPA HyperCap Workflow v3 Streamline targeted sequencing with HyperCap workflow v3
Library Preparation

KAPA DNA Library Preparation Kits

KAPA Library Preparation Accessories

KAPA Adapters

KAPA Library Amplification Kits

KAPA Library Quantification Kits

Tailor your library preparation workflow to your needs with a portfolio of streamlined, versatile solutions that reliably preserve sample sequence complexity for improved sequencing outcomes

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