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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Main Author: Takaaki Hayashi (636503) (author)
Other Authors: 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)
Published: 2025
Subjects:
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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