Transcript expression-aware annotation improves rare variant interpretation

Keyphrases

• Gain-of-function mutation 100%
• Transcript Expression 100%
• Somatic Variant Interpretation 100%
• Exon 75%
• Disease Genes 75%
• Haploinsufficient 50%
• Healthy Individuals 25%
• DNA Sequencing 25%
• Transcript Level 25%
• Intellectual Disability 25%
• Population-based Study 25%
• Alternative Splicing 25%
• Autism Spectrum Disorder 25%
• Functional Importance 25%
• Evolutionarily Conserved 25%
• Patient Study 25%
• Apparently Healthy 25%
• Annotation Tool 25%
• Tissue Sampling 25%
• Rare Diseases 25%
• Expression Dataset 25%
• Pathogenic Variants 25%
• Curation 25%
• Rare Genetic Variants 25%
• Variant Interpretation 25%
• Isoform Expression 25%
• Exon Expression 25%
• Complex Disorders 25%
• Manual Curation 25%
• Sensitive Diseases 25%
• Synonymous Variant 25%
• Intellectual Developmental Disorder 25%
• Genotype-Tissue Expression (GTEx) 25%
• Recall-by-genotype 25%
• Rare Variant Burden 25%
• Human Genetic Variation 25%

Biochemistry, Genetics and Molecular Biology

• Exon 100%
• Genotyping 50%
• Genetic Divergence 50%
• DNA Sequence 25%
• Population Research 25%
• Genetic Variation 25%
• Isoform 25%
• Alternative Splicing 25%
• Intellectual Disability 25%
• Messenger RNA 25%