CFTR haplotype phasing using long-read genome sequencing from ultralow input DNA
Haplotype phasing of rare pathogenic variants from minimal DNA input is achieved through LRS. This approach has the potential to eliminate the need for parental testing, thereby shortening the time to diagnosis in genetic disease screening.
Authors
- Antariksh Tyagi (ORCID: https://orcid.org/0000-0002-4662-077X)
- Irina G. Tikhonova (ORCID: https://orcid.org/0000-0002-6228-9431)
- Curt Scharfe (ORCID: https://orcid.org/0000-0001-6322-2039)
- Caroline Storer (ORCID: https://orcid.org/0000-0002-0349-0653)
- Neeru Gandotra (ORCID: https://orcid.org/0000-0001-8268-2823)
Institutions
- SUNY Upstate Medical University (US)
- Yale University (US)
- Menlo School (US)
- Pacific Biosciences (United States) (US)
Publication Details
- Journal
- Genetics in Medicine Open
- Published
- 2025-01-01
- DOI
- https://doi.org/10.1016/j.gimo.2025.101962
- Citations
- 1
- Primary Topic
- CRISPR and Genetic Engineering
- Type
- article
- Field-Weighted Citation Impact
- 0.81
Funders
- Yale University
- National Institute of Child Health and Human Development
- Eunice Kennedy Shriver National Institute of Child Health and Human Development