Prevalence of clinically actionable disease variants in exceptionally long-lived families

Keyphrases

• Long Life Family Study 100%
• Pathogenic Variants 100%
• Disease Variants 100%
• Long-lived Families 100%
• Breast Cancer Susceptibility Gene 1 (BRCA1) 60%
• Genomic Databases 60%
• Inherited Disorders 40%
• Publicly Available 40%
• Allele Frequency 40%
• Penetrance 40%
• Genomic Testing 20%
• Clinical Disease 20%
• Bootstrap 20%
• Family History 20%
• Autosomal Recessive 20%
• Fisher's Exact Test 20%
• Mutation Carriers 20%
• Phenotypic Expression 20%
• Recessive Variants 20%
• SUMF1 20%
• ACADM 20%
• CPT2 20%
• ACADVL 20%
• Autosomal Dominant mutation 20%

Biochemistry, Genetics and Molecular Biology

• Prevalence 100%
• Family Life 100%
• Genomic Database 60%
• BRCA1 60%
• Gene Frequency 40%
• Penetrance 40%
• ACADM 20%
• ACADVL 20%
• Autosomal Recessive Inheritance 20%
• Autosomal Dominant Inheritance 20%
• Genomics 20%