Pedigree and genotype errors in the Framingham Heart Study
2003
Errors in Pedigree and Genotype Data from the Framingham Heart Study
Sample size: 329
publication
Evidence: moderate
Author Information
Author(s): Brush Gerry, Almasy Laura
Primary Institution: Southwest Foundation for Biomedical Research
Hypothesis
Can errors in pedigree and genotype data from the Framingham Heart Study be detected and corrected?
Conclusion
The study found and resolved errors in 16 out of 21 pedigrees and identified five Mendelian errors in the genotype data.
Supporting Evidence
- Errors in 21 of 329 pedigrees were detected with the program PREST.
- Of the detected errors, 16 pedigrees had their errors resolved.
- Five Mendelian errors were found following the pedigree corrections.
- Double-recombinant errors were more common, with 142 detected.
Takeaway
The researchers looked for mistakes in family trees and genetic data from a big heart study and found some errors that they fixed.
Methodology
The study used the PREST program for pedigree error detection and SIMWALK2 for genotyping error detection.
Limitations
The findings may not generalize to other populations due to different types and distributions of pedigree errors.
Digital Object Identifier (DOI)
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