Genetic Variation in an Individual Human Exome
Author Information
Author(s): Ng Pauline C., Levy Samuel, Huang Jiaqi, Stockwell Timothy B., Walenz Brian P., Li Kelvin, Axelrod Nelson, Busam Dana A., Strausberg Robert L., Venter J. Craig
Primary Institution: J. Craig Venter Institute, Rockville, Maryland, United States of America
Hypothesis
What contributes significantly to a person's phenotype through genetic variation in the exome?
Conclusion
The majority of coding variants in this individual are common and appear to be functionally neutral, with some variants potentially improving the current human reference genome.
Supporting Evidence
- Approximately 10,400 nonsynonymous single nucleotide polymorphisms (nsSNPs) were identified.
- 14% of nsSNPs were predicted to affect protein function.
- 80% of the individual's nonsynonymous variants are commonly found in the human population.
- Variants can be used to improve the current NCBI human reference genome.
- Many rare variants and non-SNP variants will be discovered as more genomes are sequenced.
Takeaway
This study looks at the DNA of one person to see how their genes might affect their health. Most of the changes in their genes are normal and don't seem to cause problems.
Methodology
The study analyzed the exome of an individual human, focusing on variants in protein-coding regions and using bioinformatic methods to identify potentially functional variants.
Potential Biases
Potential biases in variant calling due to sequencing errors and low coverage.
Limitations
The study is limited to one individual's exome, which may not represent the general population's genetic variation.
Participant Demographics
The study focuses on the exome of a single individual, J. Craig Venter.
Statistical Information
P-Value
p<0.001
Statistical Significance
p<0.001
Digital Object Identifier (DOI)
Want to read the original?
Access the complete publication on the publisher's website