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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Bibliografiset tiedot
Päätekijä:	Takaaki Hayashi (636503) (author)
Muut tekijät:	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)
Julkaistu:	2025
Aiheet:	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
Tagit:	Lisää tagi Ei tageja, Lisää ensimmäinen tagi!

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

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