Approaches to Evaluate Whole Exome Sequencing Data That Incorporate Genetic Intolerance Scores for Congenital Anomalies, Including Intronic Regions Adjacent to Exons
WES analysis, including intronic regions and utilizing genetic intolerance scores, has the potential to efficiently improve diagnostic yield.
Authors
- K Ozawa (ORCID: https://orcid.org/0000-0002-8728-5576)
- Yuka Okazaki (ORCID: https://orcid.org/0000-0002-7470-4284)
- Fuyuki Hasegawa
- Ohsuke Migita (ORCID: https://orcid.org/0000-0002-4276-6018)
- Seiji Wada (ORCID: https://orcid.org/0000-0002-8654-6623)
- Haruhiko Sago (ORCID: https://orcid.org/0000-0001-9387-1849)
- Kazuhiko Nakabayashi (ORCID: https://orcid.org/0000-0003-2927-0963)
- Tomoko Kawai (ORCID: https://orcid.org/0000-0001-8137-0334)
- Saki Aoto (ORCID: https://orcid.org/0000-0002-9011-9341)
- Hiroko Ogata‐Kawata (ORCID: https://orcid.org/0000-0003-3421-8190)
- Asuka Hori
- Kana Fukui (ORCID: https://orcid.org/0000-0003-4834-5799)
- K. Okamura (ORCID: https://orcid.org/0000-0001-9747-5069)
- Yushi Ito (ORCID: https://orcid.org/0000-0002-8614-1052)
- Kosuke Taniguchi (ORCID: https://orcid.org/0000-0003-1562-3764)
- Ken‐ichiro Hata
Institutions
- St. Marianna University School of Medicine (JP)
- Gunma University (JP)
- National Center For Child Health and Development (JP)
- Nippon Medical School (JP)
Publication Details
- Journal
- Molecular Genetics & Genomic Medicine
- Published
- 2025-03-01
- DOI
- https://doi.org/10.1002/mgg3.70092
- Citations
- 2
- Primary Topic
- Genomics and Rare Diseases
- Type
- article
- Field-Weighted Citation Impact
- 3.63
Funders
- National Center for Child Health and Development
- Japan Agency for Medical Research and Development
- Japan Society for the Promotion of Science
- Japan Science and Technology Agency