Mutation severity spectrum of rare alleles in the human genome is predictive of disease type.

Abstract excerpt

The human genome harbors a variety of genetic variations. Single-nucleotide changes that alter amino acids in protein-coding regions are one of the major causes of human phenotypic variation and diseases. These single-amino acid variations (SAVs) are routinely found in whole genome and exome sequencing. Evaluating the functional impact of such genomic alterations is crucial for diagnosis of genetic disorders. We...

Topics

• Alleles
• Amino Acid Sequence
• Computational Biology
• Deep Learning
• Disease
• Forecasting
• Gene Regulatory Networks
• Genome, Human
• Humans
• Mutation
• Mutation, Missense