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Updated: Jul 6, 2025

A Strategy to Identify de Novo Mutations in Common Disorders such as Autism and Schizophrenia
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A Strategy to Identify de Novo Mutations in Common Disorders such as Autism and Schizophrenia

Published on: June 15, 2011

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在多样化的人口中,外体序列测序的遗传祖先和诊断产量

Yusuph Mavura1,2, Nuriye Sahin-Hodoglugil3, Ugur Hodoglugil3

  • 1Institute for Human Genetics, University of California San Francisco, San Francisco, CA, USA. Yusuph.Mavura@ucsf.edu.

NPJ genomic medicine
|January 3, 2024
PubMed
概括

外体测序 (ES) 诊断产量在不同的祖先中是公平的. 遗传血统没有影响儿科和产前患者诊断遗传疾病的可能性.

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Genome-wide association studies or GWAS are used to identify whether common SNPs are associated with certain diseases. Suppose specific SNPs are more frequently observed in individuals with a particular disease than those without the disease. In that case, those SNPs are said to be associated with the disease. Chi-square analysis is performed to check the probability of the allele likely to be associated with the disease.
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