对校准的PP3/BP4计算建议的证据收益的评估
Sarah L Stenton1,2, Vikas Pejaver3,4, Timothy Bergquist3
1Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA 02142, USA.
medRxiv : the preprint server for health sciences
|March 18, 2024
概括
这项研究发现少量罕见的误解变异符合每个患者强有力的计算证据标准. 这些发现表明,目前的指导方针不太可能将变种过分分类为致病性.
科学领域:
- 基因组学就是基因组学.
- 生物信息学是一种生物信息学.
- 临床遗传学 临床遗传学
背景情况:
- 美国医学遗传学与基因组学学院/分子病理学协会 (ACMG/AMP) 准则使用计算预测 (PP3/BP4) 来分类变异.
- 在罕见疾病诊断中,校准的计算工具对于准确的变体解释至关重要.
结论:
- 达到PP3_Strong和PP3_Moderate标准的变体数量很少,甚至是全基因组的.
- 目前的ACMG/AMP PP3/BP4建议不太可能导致过度的致病变体分类.
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