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2023 ACMG Annual Clinical Genetics Meeting Digital ...
Resolving missing heritability by iterative multid ...
Resolving missing heritability by iterative multidisciplinary and organ-specific reanalysis
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This study aimed to improve the diagnostic yield for inherited eye disorders by using a systematic analytical approach. The researchers conducted genetic testing, exome-wide re-analysis, and genome sequencing to identify pathogenic or likely pathogenic variants in patients with inherited eye disorders. They also aimed to identify rare and damaging variants in previously unknown genes related to ocular phenotypes.<br /><br />The study found that using exome-based virtual panels and subsequent exome re-analysis and genome sequencing led to a diagnostic yield of 51% and 6%, respectively. The approach identified disease-causing variants in both known and new disease genes. The study also provided information on new gene-disease relationships.<br /><br />The researchers presented case studies of three patients with inherited eye disorders. Each case had different ocular features, extra-ocular features, and family history. Genetic testing and re-analysis revealed specific gene variants in each case that were associated with the observed phenotypes.<br /><br />Importantly, the study highlights the utility of genetic testing in diagnosing inherited eye disorders. The approach not only benefits individual patients by providing a genetic diagnosis but also expands our understanding of the genetic basis of these disorders.<br /><br />In conclusion, this study demonstrated the effectiveness of a systematic analytical approach using genetic testing, exome re-analysis, and genome sequencing in diagnosing inherited eye disorders. The approach identified disease-causing variants, including those in previously unknown genes. This research contributes to improving the diagnostic yield and expanding our knowledge of the genetic basis of inherited eye disorders.
Asset Subtitle
Presenting Author - Ehsan Ullah, PhD; Co-Author - Bin Guan, PhD, FACMG; Co-Author - Amelia Naik, BS; Co-Author - Chelsea Bender, BS; Co-Author - Ranya Al Rawi, BS; Co-Author - Delphine Blain, MBA MS CGC; Co-Author - Aime Agather, CGC; Co-Author - Laryssa A. Huryn, MD; Co-Author - Wadih M. Zein, MD; Co-Author - Catherine A. Cukras, MD PhD; Co-Author - Brian P. Brooks, MD PhD; Co-Author - Robert B. Hufnagel, MD, PhD;
Meta Tag
Bioinformatics
Exome sequencing
Eye disorders
Genetic Testing
Genome sequencing
Genomic Methodologies
Malformation
Methodology
NextGen Sequencing
Sequencing
Visual System
Co-Author
Bin Guan, PhD, FACMG
Co-Author
Amelia Naik, BS
Co-Author
Chelsea Bender, BS
Co-Author
Ranya Al Rawi, BS
Co-Author
Delphine Blain, MBA MS CGC
Co-Author
Aime Agather, CGC
Co-Author
Laryssa A. Huryn, MD
Co-Author
Wadih M. Zein, MD
Co-Author
Catherine A. Cukras, MD PhD
Co-Author
Brian P. Brooks, MD PhD
Co-Author
Robert B. Hufnagel, MD, PhD
Presenting Author
Ehsan Ullah, PhD
Keywords
diagnostic yield
inherited eye disorders
systematic analytical approach
genetic testing
exome-wide re-analysis
genome sequencing
pathogenic variants
ocular phenotypes
rare and damaging variants
new gene-disease relationships
© 2024 American College of Medical Genetics and Genomics. All rights reserved.
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