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Updated: Jul 31, 2026

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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对重症儿科心脏病患者的外体和基因组测序的评估

Angela C Onorato, Rachel Gosselin, Bimal P Chaudhari

    Research square
    |May 19, 2025
    PubMed
    概括

    下一代测序 (NGS) 有效地诊断心脏病重症儿童的遗传条件. 外体和基因组测序 (ES/GS) 与染色体微阵列等传统方法相比,提供更高的诊断产量.

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    Targeted Next-generation Sequencing and Bioinformatics Pipeline to Evaluate Genetic Determinants of Constitutional Disease09:34

    Targeted Next-generation Sequencing and Bioinformatics Pipeline to Evaluate Genetic Determinants of Constitutional Disease

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    Genome-wide Association Studies-GWAS01:11

    Genome-wide Association Studies-GWAS

    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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    Advances in genomics have profoundly influenced drug discovery by increasing both the speed and accuracy of pharmaceutical development. Pharmacogenomics, which examines how genetic variation influences drug response, facilitates the identification of novel therapeutic targets and enables patient stratification for personalized treatment. These strategies contribute to improved drug efficacy, minimized adverse effects, and more efficient clinical trial design.Mapping genetic differences...