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...

全面介紹

Saved in:

書目詳細資料
主要作者:	Takaaki Hayashi (636503) (author)
其他作者:	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)
出版:	2025
主題:	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
標簽:	添加標簽沒有標簽, 成為第一個標記此記錄!

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

相似書籍