Assessment of the evidence yield for the calibrated PP3/BP4 computational recommendations

Keyphrases

• Proband 100%
• Disease Genes 66%
• Strength of Evidence 50%
• Missense Variant 50%
• Computational Prediction Tools 33%
• Rare Diseases 16%
• Genome Project 16%
• Protein-coding Genes 16%
• Allele Frequency 16%
• Intended Use 16%
• ClinGen 16%
• Score Thresholds 16%
• Genome Sequence 16%
• Human Genome Sequences 16%
• Clinical Diagnostic Laboratory 16%

Biochemistry, Genetics and Molecular Biology

• Proband 100%
• Missense 50%
• Adenosine Monophosphate 33%
• Human Genome 16%
• Gene Frequency 16%