Nov 7, 2018

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

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

Abstract

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

  • References
  • Citations

References

  • We're still populating references for this paper, please check back later.
  • References
  • Citations

Citations

  • This paper may not have been cited yet.

Mentioned in this Paper

Study
Genome
Genes
Schizophrenia
Aggregation
Candidate Disease Gene
Nucleic Acid Sequencing
Recurrent Malignant Neoplasm
Cognitive Complexity
Statistical Test

About this Paper

Related Feeds

Bipolar Disorder

Bipolar disorder is characterized by manic and/or depressive episodes and associated with uncommon shifts in mood, activity levels, and energy. Discover the latest research this illness here.

BioRxiv & MedRxiv Preprints

BioRxiv and MedRxiv are the preprint servers for biology and health sciences respectively, operated by Cold Spring Harbor Laboratory. Here are the latest preprint articles (which are not peer-reviewed) from BioRxiv and MedRxiv.

Autism

Autism spectrum disorder is associated with challenges with social skills, repetitive behaviors, and often accompanied by sensory sensitivities and medical issues. Here is the latest research.