Mutation severity spectrum of rare alleles in the human genome is predictive of disease type
Mutation severity spectrum of rare alleles in the human genome is predictive of disease type
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United States: Public Library of Science
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English
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United States: Public Library of Science
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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 geno...
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Full title
Mutation severity spectrum of rare alleles in the human genome is predictive of disease type
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TN_cdi_plos_journals_2460759834
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https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_plos_journals_2460759834
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ISSN
1553-7358,1553-734X
E-ISSN
1553-7358
DOI
10.1371/journal.pcbi.1007775
