Cas9-mediated enrichment

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Determining Breakpoints and Duplications during Genetic Testing

Chris T.L. Chan from the Hong Kong Sanitorium & Hospital in China spoke at London Calling 2019 on “Long-read NGS guided preimplantation genetic testing for chromosomal structural rearrangement.” Chan presented a clinical scenario. They explained that short-read sequencing allowed the analysis of copy number variation from blood samples. Loss of copy can be identified with […]
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Enriching and Guiding Sequencing

Today was Aurelio’s fifth birthday! Tonight, I watched Timothy Gilpatrick’s London Calling 2019 session on “Targeted nanopore sequencing with Cas9 for studies of methylation structural variants and mutations.” Gilpatrick is a Johns Hopkins University. They are interested in specific loci and want to generate high coverage of those areas to examine structural variation. The enrichment […]
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nCATS to Sequence Mobile Element Insertions

Camille Mumm, a graduate student at the University of Michigan, presented at London Calling 2023 a five-minute session entitled “Exploring the impact of mobile elements on Alzheimer’s disease using targeted long-read sequencing. They explained that Alzheimer’s disease (AD) is a devastating neurodegenerative disease with not yet fully characterized genetic mechanisms. Somatic mutations in the brains […]
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Cas9 Enrichment for KIR Haplotype Analysis

Tonight I watched the Nanopore Community Meeting 2021 session by Jesse Bruijnesteijn from the Biomedical Primate Research Center in the Netherlands. Their session was entitled “Rapid characterization of complex killer cell immunoglobulin-like receptor regions using Cas9 enrichment and nanopore sequencing.” They began by explaining the role of NK cell activation in recognizing inhibitory and activating […]
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