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Updated: Sep 9, 2025

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

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825人の患者のコホートにおける全エクソームシーケンシングの診断結果

Peter Førster Andersen1, Jakob Ek1, Helena Gásdal Karstensen1

  • 1Department of Clinical Genetics, Center of Diagnostics. Copenhagen University Hospital -Rigshospitalet, Copenhagen, Denmark.

European journal of medical genetics
|September 4, 2025
PubMed
まとめ

全エクソームシーケンシング (WES) は希少疾患の診断に不可欠です. この研究では,特に複合的な表型と特定の異常を持つ患者の33.7%に WES が診断され,遺伝診断に役立ちます.

キーワード:
診断結果人間医学 遺伝学全エクソームシーケンシング

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The first human genome sequencing project cost $2.7 billion and was declared complete in 2003, after 15 years of international cooperation and collaboration between several research teams and funding agencies. Today, with the advent of next-generation sequencing technologies, the cost and time of sequencing a human genome have dropped over 100 fold.
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Although all next-generation methods use different technologies, they all share a set of standard features....
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