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Can I read P482: Application of CRISPR-Cas9 and next-generation sequencing to resolve highly homologous genes in the human genome* on EtoBox?
P482: Application of CRISPR-Cas9 and next-generation sequencing to resolve highly homologous genes in the human genome* by Hegde, Madhuri (author);Balciuniene, Jorune (author);Guo, Fen (author);Ma, Zeqiang (author);Brown, Keith (author);Choudhary, S. (author);Siddique, A. (author);Ranganathan, S. (author);Armstrong, J. (author) is a Biochemistry, Genetics and Molecular Biology article available to read on EtoBox.
What is P482: Application of CRISPR-Cas9 and next-generation sequencing to resolve highly homologous genes in the human genome* about?
called 4q35A and 4q35B. The A haplotype includes a polyadenylation signal that neither the DUX4 gene nor the 4B haplotype have, permitting transcription of this normally silent gene when the repeat elements are reduced below 11 copies. Historically, the molecular diagnosis FSHD1 was conducted using Southern blotting for the assessment of the number of repeat elements present and the haplotype of the affected individual. However, Southern blotting is technically challenging, involves radioactive chemicals, is labor intensive, and time consuming. Methods: A laboratory-developed test based on optical genome mapping (OGM) was validated under the CLIA setting using EnFocus FSHDTM analysis. A total of 44 samples were used in the validation including healthy donor blood samples, cell lines negative for pathogenic alleles and individuals with a clinical suspicion of FSHD1. Results: The specificity, sensitivity, accuracy and precision of the OGM approach were established as 100% concordant to standard of care. Additionally, inter and intra assay precision was 100% Conclusion: These results show that the OGM assay is an accurate and highly reproducible method with a 3-4 day turn-around-time
Who reads P482: Application of CRISPR-Cas9 and next-generation sequencing to resolve highly homologous genes in the human genome*?
It is typically read by researchers, students, and practitioners in Biochemistry, Genetics and Molecular Biology.
- Author
- Hegde, Madhuri (author);Balciuniene, Jorune (author);Guo, Fen (author);Ma, Zeqiang (author);Brown, Keith (author);Choudhary, S. (author);Siddique, A. (author);Ranganathan, S. (author);Armstrong, J. (author)
- Publisher
- Elsevier BV
- Published
- 2023
- Language
- EN
- Field
- Biochemistry, Genetics and Molecular Biology (Life Sciences)