Presentation is loading. Please wait.

Presentation is loading. Please wait.

Improved Diagnosis of Inherited Retinal Dystrophies by High-Fidelity PCR of ORF15 followed by Next-Generation Sequencing  Jianli Li, Jia Tang, Yanming.

Published byPascual Escobar Ortíz Modified over 6 years ago

Similar presentations

Presentation on theme: "Improved Diagnosis of Inherited Retinal Dystrophies by High-Fidelity PCR of ORF15 followed by Next-Generation Sequencing  Jianli Li, Jia Tang, Yanming."— Presentation transcript:

1 Improved Diagnosis of Inherited Retinal Dystrophies by High-Fidelity PCR of ORF15 followed by Next-Generation Sequencing  Jianli Li, Jia Tang, Yanming Feng, Mingchu Xu, Rui Chen, Xuan Zou, Ruifang Sui, Emmanuel Y. Chang, Richard A. Lewis, Victor W. Zhang, Jing Wang, Lee-Jun C. Wong  The Journal of Molecular Diagnostics  Volume 18, Issue 6, Pages (November 2016) DOI: /j.jmoldx Copyright © 2016 American Society for Investigative Pathology and the Association for Molecular Pathology Terms and Conditions

2 Figure 1 A: The coverage of the highly repetitive region of ORF15 is increased using PCR/next-generation sequencing (NGS) in three samples (solid lines) comparing with three samples that used capture-based NGS (dashed lines) or whole exome sequencing (gray lines). B: Two hemizygous in-frame benign variants, c.2541_2561del21 and c.2606_2620del15, are detected by PCR/NGS and confirmed by Sanger sequencing. C: A hemizygous in-frame benign variant, c.2820_2840dup21 (p.D943_E949dup), is detected by NGS (red box) and confirmed by Sanger sequencing. The original and duplicated sequences are underlined with blue and red lines in Sanger trace. The Journal of Molecular Diagnostics  , DOI: ( /j.jmoldx ) Copyright © 2016 American Society for Investigative Pathology and the Association for Molecular Pathology Terms and Conditions

3 Figure 2 A and B: Two hemizygous frameshift pathogenic variants, c.2426_2427delAG (p.E809Kfs*25) and c.2899delG (p.E967Kfs*122), are detected in two young retinitis pigmentosa (RP) patients, P2 and P3, by next-generation sequencing (NGS) and confirmed by Sanger sequencing. C: A heterozygous 5-bp deletion c.2293_2297delGAGGG (p.E765Rfs*3) is detected in a female RP patient, P6, by NGS and confirmed by Sanger sequencing in forward (F) and reverse (R) directions. The Journal of Molecular Diagnostics  , DOI: ( /j.jmoldx ) Copyright © 2016 American Society for Investigative Pathology and the Association for Molecular Pathology Terms and Conditions

Download ppt "Improved Diagnosis of Inherited Retinal Dystrophies by High-Fidelity PCR of ORF15 followed by Next-Generation Sequencing  Jianli Li, Jia Tang, Yanming."

Similar presentations

Measurement of Relative Copy Number of CDKN2A/ARF and CDKN2B in Bladder Cancer by Real-Time Quantitative PCR and Multiplex Ligation-Dependent Probe Amplification.

Measurement of Relative Copy Number of CDKN2A/ARF and CDKN2B in Bladder Cancer by Real-Time Quantitative PCR and Multiplex Ligation-Dependent Probe Amplification.
Development of a Novel One-Tube Isothermal Reverse Transcription Thermophilic Helicase-Dependent Amplification Platform for Rapid RNA Detection James Goldmeyer,

Development of a Novel One-Tube Isothermal Reverse Transcription Thermophilic Helicase-Dependent Amplification Platform for Rapid RNA Detection James Goldmeyer,
CyclinD1/CyclinD3 Ratio by Real-Time PCR Improves Specificity for the Diagnosis of Mantle Cell Lymphoma Carol D. Jones, Katherine H. Darnell, Roger A.

CyclinD1/CyclinD3 Ratio by Real-Time PCR Improves Specificity for the Diagnosis of Mantle Cell Lymphoma Carol D. Jones, Katherine H. Darnell, Roger A.
Design and Multiseries Validation of a Web-Based Gene Expression Assay for Predicting Breast Cancer Recurrence and Patient Survival Ryan K. Van Laar The.

Design and Multiseries Validation of a Web-Based Gene Expression Assay for Predicting Breast Cancer Recurrence and Patient Survival Ryan K. Van Laar The.
A Melting Curve Analysis–Based PCR Assay for One-Step Genotyping of β- Thalassemia Mutations  Fu Xiong, Qiuying Huang, Xiaoyun Chen, Yuqiu Zhou, Xinhua.

A Melting Curve Analysis–Based PCR Assay for One-Step Genotyping of β- Thalassemia Mutations  Fu Xiong, Qiuying Huang, Xiaoyun Chen, Yuqiu Zhou, Xinhua.
Keyur P. Patel, Bedia A. Barkoh, Zhao Chen, Deqin Ma, Neelima Reddy, L

Keyur P. Patel, Bedia A. Barkoh, Zhao Chen, Deqin Ma, Neelima Reddy, L
Hepatitis C Virus RNA Real-Time Quantitative RT-PCR Method Based on a New Primer Design Strategy  Lida Chen, Wenli Li, Kuo Zhang, Rui Zhang, Tian Lu,

Hepatitis C Virus RNA Real-Time Quantitative RT-PCR Method Based on a New Primer Design Strategy  Lida Chen, Wenli Li, Kuo Zhang, Rui Zhang, Tian Lu,
Ane Y. Schmidt, Thomas v. O. Hansen, Lise B

Ane Y. Schmidt, Thomas v. O. Hansen, Lise B
Development of a Next-Generation Sequencing Method for BRCA Mutation Screening  Maurice Chan, Shen Mo Ji, Zhen Xuan Yeo, Linda Gan, Eric Yap, Yoon Sim.

Development of a Next-Generation Sequencing Method for BRCA Mutation Screening  Maurice Chan, Shen Mo Ji, Zhen Xuan Yeo, Linda Gan, Eric Yap, Yoon Sim.
Implementation of a Reliable Next-Generation Sequencing Strategy for Molecular Diagnosis of Dystrophinopathies  Melissa Alame, Delphine Lacourt, Reda.

Implementation of a Reliable Next-Generation Sequencing Strategy for Molecular Diagnosis of Dystrophinopathies  Melissa Alame, Delphine Lacourt, Reda.
Assessment of Target Enrichment Platforms Using Massively Parallel Sequencing for the Mutation Detection for Congenital Muscular Dystrophy  C. Alexander.

Assessment of Target Enrichment Platforms Using Massively Parallel Sequencing for the Mutation Detection for Congenital Muscular Dystrophy  C. Alexander.
Hepatitis C Virus RNA Real-Time Quantitative RT-PCR Method Based on a New Primer Design Strategy  Lida Chen, Wenli Li, Kuo Zhang, Rui Zhang, Tian Lu,

Hepatitis C Virus RNA Real-Time Quantitative RT-PCR Method Based on a New Primer Design Strategy  Lida Chen, Wenli Li, Kuo Zhang, Rui Zhang, Tian Lu,
Simultaneous Genotyping of α-Thalassemia Deletional and Nondeletional Mutations by Real-Time PCR–Based Multicolor Melting Curve Analysis  Qiuying Huang,

Simultaneous Genotyping of α-Thalassemia Deletional and Nondeletional Mutations by Real-Time PCR–Based Multicolor Melting Curve Analysis  Qiuying Huang,
Validation of a Next-Generation Sequencing Pipeline for the Molecular Diagnosis of Multiple Inherited Cancer Predisposing Syndromes  Paula Paulo, Pedro.

Validation of a Next-Generation Sequencing Pipeline for the Molecular Diagnosis of Multiple Inherited Cancer Predisposing Syndromes  Paula Paulo, Pedro.
Laboratory Guidelines for Detection, Interpretation, and Reporting of Maternal Cell Contamination in Prenatal Analyses  Narasimhan Nagan, Nicole E. Faulkner,

Laboratory Guidelines for Detection, Interpretation, and Reporting of Maternal Cell Contamination in Prenatal Analyses  Narasimhan Nagan, Nicole E. Faulkner,
The Spectrum of CFTR Variants in Nonwhite Cystic Fibrosis Patients

The Spectrum of CFTR Variants in Nonwhite Cystic Fibrosis Patients
Haplotype Counting for Sensitive Chimerism Testing

Haplotype Counting for Sensitive Chimerism Testing
Improving Mutation Screening in Patients with Colorectal Cancer Predisposition Using Next-Generation Sequencing  Jean-Marc Rey, Vincent Ducros, Pascal.

Improving Mutation Screening in Patients with Colorectal Cancer Predisposition Using Next-Generation Sequencing  Jean-Marc Rey, Vincent Ducros, Pascal.
Pyrosequencing Is an Accurate and Reliable Method for the Analysis of Heteroplasmy of the A3243G Mutation in Patients with Mitochondrial Diabetes  Jing-bin.

Pyrosequencing Is an Accurate and Reliable Method for the Analysis of Heteroplasmy of the A3243G Mutation in Patients with Mitochondrial Diabetes  Jing-bin.
A Melting Curve Analysis–Based PCR Assay for One-Step Genotyping of β- Thalassemia Mutations  Fu Xiong, Qiuying Huang, Xiaoyun Chen, Yuqiu Zhou, Xinhua.

A Melting Curve Analysis–Based PCR Assay for One-Step Genotyping of β- Thalassemia Mutations  Fu Xiong, Qiuying Huang, Xiaoyun Chen, Yuqiu Zhou, Xinhua.

Similar presentations

Ads by Google