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Updated: Oct 25, 2025

Targeted Next-generation Sequencing and Bioinformatics Pipeline to Evaluate Genetic Determinants of Constitutional Disease
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281,104の英国バイオバンクエクソムのヒト疾患への希少変異の寄与

Quanli Wang1, Ryan S Dhindsa1, Keren Carss2

  • 1Centre for Genomics Research, Discovery Sciences, BioPharmaceuticals R&D, AstraZeneca, Waltham, MA, USA.

Nature
|August 10, 2021
PubMed
まとめ

希少な遺伝子変異は ヒトの一般的な病気に大きく寄与します イギリスのバイオバンクから得られた エクソームデータの遺伝子分析により 何千もの関連が明らかになり,その多くは単一変異のテストで 見過ごされました.

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