Testing the effect of rare compound-heterozygous and recessive mutations in case--parent sequencing studies.

Abstract excerpt

Compound heterozygous mutations are mutations that occur on different copies of genes and may completely "knock-out" gene function. Compound heterozygous mutations have been implicated in a large number of diseases, but there are few statistical methods for analyzing their role in disease, especially when such mutations are rare. A major barrier is that phase information is required to determine whether both gene...

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