Article

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

2019-11-10

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 d...

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Literature Corpus work: 3cca31ba-18eb-5b38-8a02-e8825f371651
DOI: 10.1101/835462

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