Population genetics

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

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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.

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Whole genome sequencing

Whole genome sequencing to generate de novo assemblies of population-specific reference genomes

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Variant detection

Variant detection for comprehensive detection of all variants in a genome including single nucleotide variants, indels, structural variants (SVs), and copy number variants (CNVs) with high precision and recall

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Structural variant detection

Structural variant detection for affordable calling of SVs, CNVs, and large indels with high precision and recall

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Targeting sequencing

Targeting sequencing to accurately discover and detect all variant types even in the hardest to reach regions of the genome

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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.

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Structural variants + disease

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

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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.

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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.


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.

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