遇见数据集

Pathogenic variants that the clinical laboratory specialist and expert physicians agree should be disclosed as secondary findings.

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Figshare2015-12-03 更新2026-04-29 收录
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aAFR, African.bEUR, European.cASN, East Asian.dAMR, the Americas.eSplice variant.Pathogenic variants that the clinical laboratory specialist and expert physicians agree should be disclosed as secondary findings.

该数据集涵盖以下类别:aAFR(非洲人群)、bEUR(欧洲人群)、cASN(东亚人群)、dAMR(美洲人群)、剪接变异体(splice variant),以及经临床实验室专家与资深医师确认需作为附带发现(secondary findings)披露的致病性变异。

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2015-12-03
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