Accurate prediction of the functional significance of single nucleotide polymorphisms and mutations in the ABCA1 gene.
The human genome contains an estimated 100,000 to 300,000 DNA variants that alter an amino acid in an encoded protein. However, our ability to predict which of these variants are functionally significant is limited. We used a bioinformatics approach to define the functional significance of genetic v...
| Format: | Article |
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| Language: | English |
| Published: |
Public Library of Science (PLoS)
2005-12-01
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| Series: | PLoS Genetics |
| Online Access: | http://dx.doi.org/10.1371/journal.pgen.0010083 |