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Powering genetic discovery

Advanced exploration of human genomes requires reference quality assemblies of diverse populations. We must look beyond single nucleotides to include comprehensive structural variant mapping of individuals and large cohorts to fully understand the complexity of human health and disease.

A world of diversity coming to light

Single Molecule, Real-Time (SMRT) Sequencing is informing population-specific reference genomes around the world by uncovering regions of the genome not previously sequenced and enabling detection of all variant types. With the PacBio System scientists can:

PacBio long-read sequencing is being used to develop population-specific reference genomes as part of international research efforts. To learn more about these projects, explore select publications and web pages describing these resources including: Japanese, Yoruban, Korean, Chinese, Puerto Rican, European, Columbian, Vietnamese, Gambian, Luhya.

Spotlight: Structural variant discovery with PacBio long-read sequencing

Explore human genetic variation and learn how SMRT Sequencing uncovers the full spectrum of structural variants to advance understanding of genetic disease and broaden our knowledge of human diversity.

Infographic: Structural Variants and Disease

 

Explore the types of human genomic variation and the diseases known to be caused by structural variants.

 

Download the infographic

Whitepaper: Structural variation in the human genome

 

Learn how long-read sequencing is enabling detection of the full spectrum of structural variants to advance the study of human disease, evolution, and genetic diversity.

 

Download the whitepaper

Structural Variation Project Calculator

 

Use this calculator to estimate the time and materials needed for structural variant discovery on the Sequel System.


Spotlight: SMRT Sequencing delivers a Chinese reference genome

Scientists used PacBio long-read sequencing to construct a de novo assembly of a Chinese genome (HX-1). This high-quality assembly filled 247 N-gaps in the GRCh38 reference sequence and shed light on 12.8 Mb of Chinese population-specific sequences and novel structural variants. Explore this research further:

Shi, L. et al., 2016. Long-read sequencing and de novo assembly of a Chinese genome. Nature Communications, 7, p.12065.

Spotlight: Long-read sequencing sheds light on MHC diversity in Africa

Martin Pollard presents his research to better represent natural variation in the major histocompatibility complex (MHC) among African populations. PacBio long reads provided full-length sequences of the human leukocyte antigen haplotypes, enabling improved understanding of genetic diversity.

Pollard, M., 2016. ASHG Virtual Poster: The MHC Diversity in Africa Project (MDAP) pilot – 125 African high-resolution HLA types from 5 populations. 66th Annual Meeting of the American Society of Human Genetics.

For more information about how SMRT Sequencing can advance your population genetics research, contact us.

Selected Resources