Article

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

2018-11-07

Abstract excerpt

<h4>Motivation</h4> 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...

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Literature Corpus work: 91d095c7-94ab-5710-97a2-10426d48fbe0
DOI: 10.1101/464842

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