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Autism Endophenotypes and Quantitative Trait Loci 

Autism Endophenotypes and Quantitative Trait Loci
Chapter:
Autism Endophenotypes and Quantitative Trait Loci
Author(s):

Rita M . Cantor

DOI:
10.1093/med/9780195371826.003.0045
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date: 19 October 2017

The genetic complexity of autism spectrum disorders (ASD) can be addressed by studying correlated quantitative endophenotypes that have simpler modes of inheritance. Successful ASD endophenotypes will exhibit wide variation and substantial heritability. Quantitative trait loci (QTL) studies of these endophenotypes involve selecting an appropriate study sample that captures sufficient variation in those who are affected and possibly those who are unaffected. The choice of statistical algorithm for QTL mapping will depend on the individuals who can be studied and the distribution of the endophenotype. Although QTL studies for ASD are at an early stage, its application to ASD has led to initial successes.

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