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...

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書誌詳細
第一著者:	Takaaki Hayashi (636503) (author)
その他の著者:	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)
出版事項:	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
タグ:	タグ追加タグなし, このレコードへの初めてのタグを付けませんか!

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

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