Nov 7, 2018

Detection of rare disease-related genetic variants using the birthday model

BioRxiv : the Preprint Server for Biology
Yael BersteinW. Richard McCombie


Motivation: Exome sequencing is a powerful technique for the identification of disease-causing genes. A number of Mendelian inherited disease genes have been identified through this method. However, it remains a challenge to leverage exome sequencing for the study of complex disorders, such as schizophrenia and bipolar disorder, due to the genetic and phenotypic heterogeneity of these disorders. Although not feasible for many studies, sequencing large sample sizes (>10,000) may improve statistical power to associate more variants, while the aggregation of distinct rare variants associated with a given disease can make the identification of causal genes statistically challenging. Therefore, new methods for rare variant association are imperative to identify causative genes of complex disorders. Results: Here we propose a method to predict causative rare variants using a popular probabilistic problem: The Birthday Model, which estimates the probability that multiple individuals in a group share the same birthday. We consider the probability and coincidence of samples sharing a variant akin to the chance of individuals sharing the same birthday. We investigated the parameter effects of our model, providing guidelines for its use a...Continue Reading

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Mentioned in this Paper

Candidate Disease Gene
Nucleic Acid Sequencing
Recurrent Malignant Neoplasm
Cognitive Complexity
Statistical Test

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