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Predicting Consanguinity Rates from Exome Sequencing Data in the Lebanese Population
Eileen Marie Hanna1, Cybel Mehawej2, Joelle Assy1
1Department of Computer Science and Mathematics, Lebanese American University, Byblos, Lebanon.
The Journal of Molecular Diagnostics : JMD
|December 26, 2024
Summary
Consanguineous marriages increase genetic disorder risk. This study developed a model using exome sequencing data to predict consanguinity status in Lebanese individuals, achieving 94% accuracy.
Area of Science:
- Genetics
- Population Health
Background:
- Consanguinity, common in Lebanon (35.5%), elevates the risk of autosomal recessive genetic disorders.
- Predicting consanguinity is crucial for genetic counseling and risk assessment in high-prevalence populations.
Purpose of the Study:
- To develop a predictive model for consanguinity status using total runs of homozygosity (ROH) size from exome sequencing data.
- To establish population-specific thresholds for assessing consanguinity in Lebanese individuals.
Main Methods:
- Analysis of exome sequencing data from 784 Lebanese individuals to detect runs of homozygosity (ROH) using AutoMap.
- Development of logistic regression models to predict consanguinity status based on total ROH size, with accuracy assessed on 521 individuals.
Main Results:
- A logistic regression model excluding outliers achieved 94% accuracy in predicting consanguinity status.
- Specific ROH thresholds were defined: nonconsanguineous (<40.28 Mb), uncertain (40.28–79.17 Mb), probable consanguinity (79.18–118.06 Mb), and consanguineous (>118.06 Mb).
Conclusions:
- The study presents a valuable tool for clinical genetics in populations with high consanguinity rates.
- The findings highlight the importance of population-specific ROH thresholds for accurate consanguinity assessment and genetic risk evaluation.
