Unlock rare disease genomics

Improvements in sequencing technology are increasing the ability of scientists to shed light on previously unresolved medical mysteries and enable the development of rare disease diagnostics.

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Rare diseases need better solutions

Although rare diseases are individually rare, collectively they are common, affecting 1 out of 15 people worldwide with an estimated >70% of cases being genetic in origin and >50% of cases remaining unsolved. This is despite many people undergoing diagnostic tests using approaches including microarrays, whole exome, or short-read whole genome sequencing.

Highly accurate long-read sequencing, known as HiFi sequencing, provides a higher resolution approach compared to previously used technologies to better understand the genetic causes of rare disease.

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The benefits of HiFi sequencing for rare diseases

With accuracy 99.9% and long read lengths up to 25 kb, HiFi sequencing allows scientists to find causative pathogenic variants and identify novel disease-associated genes with:

  • Best-in-class variant calling for all variant types including single nucleotide variants (SNV), indels, copy number variants (CNVs), and structural variants (SVs)
  • Complete, accurate, and phased assemblies of the human genome — including regions previously inaccessible to other technologies — for accurate typing of genes including HLA and CYP2D6

Genomic Answers For Kids

Spotlight: Children's Mercy Hospital uses HiFi sequencing in Genomic Answers for Kids study

Children’s Mercy Kansas City has expanded its investment in PacBio Sequel IIe systems to scale up whole genome research initiatives focused on rare disease research, and the results are already beginning to add up. Read about their success in resolving the mysteries of rare and inherited disease in children in our newly released customer success story.

Roundel of Childrens Mercy Kansas City photo of two boys - PacBio case study

How HiFi sequencing helps answer difficult rare disease questions

In the video, Dr. Emily G. Farrow of Children’s Mercy Kansas City discusses three studies in which PacBio HiFi sequencing was able to explain genetic mysteries where other technologies had failed due to several challenges including phasing of variants, achieving even sequence coverage, and sequencing repetitive regions.

Explore the range of HiFi sequencing applications

Whole genome sequencing

Generate reference-quality de novo genome assemblies

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Variant detection

Comprehensively detect all variants in the human genome

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Targeted sequencing

Focus on variation in even the most difficult regions of the genome

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RNA Sequencing

Get a complete view of transcript isoform diversity — no assembly required

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Scalable human whole genome HiFi sequencing for rare and inherited disease research

Explore our efficient and scalable workflow, developed in collaboration with Children’s Mercy Kansas City, for high-throughput sequencing and comprehensive variant detection to better understand the genetic causes of rare and inherited diseases.

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12 kb inversion identified as causative in syndromic intellectual disability

HiFi sequencing of a trio identifies a pathogenic heterozygous 12 kb de novo inversion that disrupts the BRPF1 gene. SNVs (marked with “*”) show that the inversion occurred on the maternal allele #3. Read more about this study in the blog post.

Mizuguchi, T., et al. (2021) Pathogenic 12-kb copy-neutral inversion in syndromic intellectual disability identified by high-fidelity long-read sequencing. d. 113(1).

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