PacBio HiFi sequencing technology continues to be the tool of choice for genomics professionals working at the forefront of discovery, enabling them to pursue new avenues of exploration across diverse domains of biology.In this edition of our Powered by PacBio blog series, we highlight scientific papers from the month of November 2023 that showcase the power of PacBio HiFi sequencing in unraveling the complexities of immunology, medical genetics, and human embryonic development.
Immunology Medical genetics Embryonic development
Immunology: Decoding the killer-cell immunoglobulin-like receptor gene complex
A team of researchers in Taiwan undertook a comprehensive analysis of the highly polymorphic Killer-Cell Immunoglobulin-Like Receptor (KIR) gene complex. The KIR region plays a critical role in innate and adaptive immunity with a strong influence on infectious disease progression, organ transplantation success, and auto-immune diseases among others. Structural variants in this region (and many others) are notoriously difficult to study with short-read sequencing. By leveraging 47 diploid HiFi assemblies and a novel bioinformatics tool, Structural KIR annoTator (SKIRT), the team achieved complete haplotype resolution and discovered 570 novel alleles in the KIR gene complex. The study sheds light on the importance of high-resolution HiFi genome assemblies in exploring challenging polymorphic regions.
Medical genetics: PacBio long-read sequencing for potential genetic disease detection
Article: Third-generation sequencing for genetic disease
A Chinese team put together this comprehensive review highlighting the clinical significance of PacBio HiFi sequencing in genetic disease detection research. This expansive review covers the literature (92 references in all) on an array of genetic conditions, including thalassemia, congenital adrenal hyperplasia, spinal muscular atrophy, and more. The piece underscores the value of preimplantation genetic testing with HiFi sequencing (referred to as SMRT sequencing in the paper) and explores future prospects, including long cell-free DNA and somatic structural variation research in cancer-related genes.
Human Development: Illuminating the complexity of transcriptomics in human embryos
Article: Isoform-resolved transcriptome of the human preimplantation embryo
In this groundbreaking study spanning multiple institutions, researchers achieved the first isoform-resolved transcriptome of early human development. By employing a combination of PacBio long-read RNA sequencing and short-read RNA-seq on 73 embryos, the team identified over 110,000 unannotated isoforms and demonstrated the limitations of current gene annotation databases. The study emphasizes the importance of an isoform-resolved approach in comprehensively profiling RNA expression and splicing during critical stages of development
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These recent publications exemplify the versatility and power of HiFi sequencing technology. From cracking intricate immunological regions to advancing clinical diagnostic research and unraveling the complexities of human development, PacBio sequencing is enabling scientific pioneers to drive innovative breakthroughs like never before.
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