Limitations of short-read NGS in detecting RP1 Alu insertions: a case emphasizing Sanger confirmation

To assess the detectability of the pathogenic RP1 Alu insertion using the PrismGuide™ inherited retinal dystrophy (IRD) panel, which targets 82 IRD genes, and whole-exome sequencing (WES). A girl diagnosed with early-onset retinitis pigmentosa at age 7...

Полное описание

Сохранить в:

Библиографические подробности
Главный автор:	Takaaki Hayashi (636503) (author)
Другие авторы:	Kei Mizobuchi (21609992) (author), Natsuki Higa (21610551) (author), Hiroko Maki (22684685) (author), Kazuki Kuniyoshi (636506) (author), Yuichi Ikeda (674126) (author), Mineo Kondo (168134) (author), Hirotomo Saitsu (459421) (author)
Опубликовано:	2025
Предметы:	Medicine Microbiology Cell Biology Genetics Pharmacology Biotechnology Evolutionary Biology Cancer Infectious Diseases Virology Biological Sciences not elsewhere classified Information Systems not elsewhere classified Retinitis pigmentosa Alu element insertion targeted panel analysis whole-exome sequencing Sanger sequencing
Метки:	Добавить метку Нет меток, Требуется 1-ая метка записи!

Limitations of short-read NGS in detecting <i>RP1 Alu</i> insertions: a case emphasizing Sanger confirmation

Схожие документы