Genomics and Rare Diseases

Genomics and Rare Diseases is a research topic within Genetics. Science Explorer counts 27k research works in it since 1950. 10.0% of them reached the world's top 10% most cited for their field and year.

This cluster of papers focuses on the standards, guidelines, and tools for interpreting genetic variants, particularly in the context of clinical genomics and Mendelian disorders. It includes topics such as pathogenicity prediction, functional annotations, sequence interpretation, and the use of exome sequencing for identifying disease-causing variants.

• Genetic Variants
• Sequence Interpretation
• Clinical Genomics
• Pathogenicity Prediction
• Exome Sequencing
• Mendelian Disorders
• Functional Annotations
• Variant Databases
• Phenotype Analysis
• ACMG Guidelines