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Updated: Mar 22, 2026

Targeted Next-generation Sequencing and Bioinformatics Pipeline to Evaluate Genetic Determinants of Constitutional Disease
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遺伝子 変異 と 病気 の 間 の 主要 な 関連 は,RNA スプライシング です

Yang I Li1, Bryce van de Geijn2, Anil Raj1

  • 1Department of Genetics, Stanford University, Stanford, CA, USA.

Science (New York, N.Y.)
|April 30, 2016
PubMed
まとめ

複合的な特徴に影響を与える遺伝的変異は,非コーディングDNAでしばしば作用する. この研究では,スプライシングQTLは,発現QTLに匹敵する遺伝子調節と複雑な特性に著しく影響していることが明らかになりました.

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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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