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

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

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

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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
主题:	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
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