PacBio announced a multi-year collaboration with Invitae Corporation, a leading medical genetics company, to begin development of a production-scale high-throughput sequencing platform leveraging the power of PacBio’s highly accurate HiFi sequencing to expand Invitae’s whole genome testing capabilities.
With the ability of HiFi reads to detect genetic variants and even in hard-to-sequence regions of the genome, this collaboration make WGS-powered analysis more accessible for areas such as carrier screening, evaluating immune system responses, and diagnosing other heritable disease.
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PacBio APAC Virtual HiFi Sequencing Summit 2020
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PAGBio Day 2021 (PacBio Plant and Animal Genomics Day)
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HiFi Metagenomics 101: From Sample to High Resolution Genomes
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Protocol/document releases from Dec 2020.
PNAS February 2, 2021 118 (5) e2019768118. https://www.pnas.org/content/pnas/118/5/e2019768118.full.pdf
•Chinese University of Hong Kong (CUHK) research team led by Prof Dennis Lo have developed a new method that greatly improves the detection of DNA cytosine methylation using Pacific Biosciences single-molecule real-time sequencing data.
•The approach, called the holistic kinetic (HK) model considers kinetic signals from the DNA polymerase used in PacBio sequencing, as well as the sequence context, to determine cytosine methylation sites.
•After training a methylation classification model using a convolutional neural network, it was reported being able to detect cytosine methylation, or 5-methyl-C, with 90% specificity and 94% sensitivity, with a 99% correlation of overall methylation level with bisulfite sequencing (Fig.1).
•The advantage of the method is that it allows simultaneous determination of DNA sequence and CpG methylation in one go, with high base-calling accuracy, and without the use of a step that is destructive to the input DNA which is always a problem with the traditional method of bisulfite sequencing.
•More importantly, PacBio long read sequencing platform can overcome the problem of short read sequencing platform on generating methylation data over larger distances in the genome to generate methylation haplotypes.
•The potential applications of the patent-pending method include epigenetic studies in humans and other organisms as well as molecular diagnostics.