An AI-based approach driven by genotypes and phenotypes to uplift the diagnostic yield of genetic diseases
Identifying disease-causing variants in Rare Disease patients' genome is a challenging
problem. To accomplish this task, we describe a machine learning framework, that we called …
problem. To accomplish this task, we describe a machine learning framework, that we called …
Prioritizing genomic variants pathogenicity via DNA, RNA, and protein-level features based on extreme gradient boosting
Genetic diseases are mostly implicated with genetic variants, including missense,
synonymous, non-sense, and copy number variants. These different kinds of variants are …
synonymous, non-sense, and copy number variants. These different kinds of variants are …