Exome-based mapping and variant prioritization for inherited mendelian disorders

Keyphrases

• Exome 100%
• Mendelian Disorders 100%
• Exome Sequencing 100%
• Variant Prioritization 100%
• Autosomal Dominant Retinitis pigmentosa 66%
• Gene-gene 33%
• Gene Expression 33%
• Family-centered 33%
• Vision Loss 33%
• Identity by Descent 33%
• Common Disease 33%
• Sequence Data 33%
• Clinical Assessment 33%
• Causal Variants 33%
• Rare Variants 33%
• Sequencing Studies 33%
• Disease-causing mutations 33%
• Predicted Genes 33%
• Search Space 33%
• Exome Capture 33%
• New Disease 33%
• RP Gene 33%
• Freely Available 33%
• Autosomal Dominant Disorder 33%
• Causal mutation 33%
• Families with multiples 33%
• Rare Genetic Disease 33%
• Population Frequency 33%
• Complementary Approach 33%
• Scoring Algorithm 33%
• Extended Pedigrees 33%
• Predicted Effects 33%
• Mendelian Disease Genes 33%
• Night Blindness 33%
• Disease Genes 33%
• Rare Disorders 33%

Biochemistry, Genetics and Molecular Biology

• Exome 100%
• Autosomal Dominant Inheritance 75%
• Retinitis pigmentosa 50%
• Gene Expression 25%
• Genetic Disorder 25%
• Population 25%
• Exome Sequencing 25%
• Pedigree 25%