Resolving missing heritability by iterative multidisciplinary and organ-specific reanalysis
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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

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