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Updated: Sep 8, 2025

Targeted Next-generation Sequencing and Bioinformatics Pipeline to Evaluate Genetic Determinants of Constitutional Disease
09:34

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

Published on: April 4, 2018

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散発性疾患のコホートにおけるゲルムライン変異呼び出しツールの性能比較

Qiaofeng Song1, Jinglan Zhai1, Changshui Chen2

  • 1Human Phenome Institute, MOE Key Laboratory of Contemporary Anthropology, Zhangjiang Fudan International Innovation Center, Fudan University, 825 Zhangheng Road, Shanghai, 201203, China.

Molecular genetics and genomics : MGG
|September 6, 2025
PubMed
まとめ

DeepVariantとGATK HaplotypeCallerは,まれな疾患の変異の呼び出しに対して異なる強さを示しています. 適切なツールの選択は や自閉症のような 稀な症例の正確な遺伝子診断に 極めて重要です

キーワード:
NGS についてSNV/INDELの通話者散発性疾患のコホートエクソーム全体のシーケンシング

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Sequencing of the human genome has opened up several best-kept secrets of the genome. Scientists have identified thousands of genome variations that exist within a population. These variations can be a single nucleotide or a larger chromosomal variation.
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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.
GWAS does not require the identification of the target gene involved in...
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