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Updated: Jul 3, 2026

Genetic Mapping of Thermotolerance Differences Between Species of Saccharomyces Yeast via Genome-Wide Reciprocal Hemizygosity Analysis
Published on: August 12, 2019
My sister's keeper?: genomic research and the identifiability of siblings
Christopher A Cassa1, Brian Schmidt, Isaac S Kohane
1Children's Hospital Informatics Program at the Harvard-MIT Division of Health Sciences and Technology, Boston, MA, USA. cassa@mit.edu
Background:
Genomic sequencing of SNPs is increasingly prevalent, though the amount of familial information these data contain has not been quantified.
Methods:
We provide a framework for measuring the risk to siblings of a patient's SNP genotype disclosure, and demonstrate that sibling SNP genotypes can be inferred with substantial accuracy.
Results:
Extending this inference technique, we determine that a very low number of matches at commonly varying SNPs is sufficient to confirm sib-ship, demonstrating that published sequence data can reliably be used to derive sibling identities. Using HapMap trio data, at SNPs where one child is homozygotic major, with a minor allele frequency = 0.20, (N = 452684, 65.1%) we achieve 91.9% inference accuracy for sibling genotypes.
Conclusion:
These findings demonstrate that substantial discrimination and privacy risks arise from use of inferred familial genomic data.
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