The DOI matches its Crossref record; 38 of the 38 references it cites were found in a registry or an index.
Accounting for Human Polymorphisms Predicted to Affect Protein Function
Open accessAbstract
A major interest in human genetics is to determine whether a nonsynonymous single-base nucleotide polymorphism (nsSNP) in a gene affects its protein product and, consequently, impacts the carrier's health. We used the SIFT (Sorting Intolerant From Tolerant) program to predict that 25% of 3084 nsSNPs from dbSNP, a public SNP database, would affect protein function. Some of the nsSNPs predicted to affect function were variants known to be associated with disease. Others were artifacts of SNP discovery. Two reports have indicated that there are thousands of damaging nsSNPs in an individual's human genome; we find the number is likely to be much lower.
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Self-citation
Metadata
- Authors
- Ng, P. C., & Henikoff, S.
- Venue
- Genome Research
- Publisher
- Cold Spring Harbor Laboratory
- Published
- 2002-03-01
- Volume
- 12
- Issue
- 3
- Pages
- 436-446
- ISSN
- 1088-9051 (ISSN-L)
- 1549-5469
- OpenAlex
- W2141481588
- Cited by
- 699
- References
- 38
- Type
- posted content
- Language
- en
- Open access
- bronze
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