Towards fair and clinically relevant polygenic predictions

IF 13.6 2区生物学 Q1 GENETICS & HEREDITY

Trends in Genetics Pub Date : 2024-04-19 DOI:10.1016/j.tig.2024.04.002

Bjarni Jóhann Vilhjálmsson

引用次数: 0

Abstract

Lennon et al. recently proposed a clinical polygenic score (PGS) pipeline as part of the Electronic Medical Records and Genomics (eMERGE) network initiative. In this spotlight article we discuss the broader context for the use of PGS in preventive medicine and highlight key limitations and challenges facing their inclusion in prediction models.

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实现公平且与临床相关的多基因预测

Lennon 等人最近提出了临床多基因评分（PGS）管道，作为电子病历和基因组学（eMERGE）网络计划的一部分。在这篇聚焦文章中，我们讨论了在预防医学中使用 PGS 的大背景，并强调了将其纳入预测模型所面临的主要限制和挑战。

本文章由计算机程序翻译，如有差异，请以英文原文为准。

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来源期刊

Trends in Genetics 生物-遗传学

CiteScore

20.90

自引率

0.90%

发文量

160

审稿时长

6-12 weeks

期刊介绍： Launched in 1985, Trends in Genetics swiftly established itself as a "must-read" for geneticists, offering concise, accessible articles covering a spectrum of topics from developmental biology to evolution. This reputation endures, making TiG a cherished resource in the genetic research community. While evolving with the field, the journal now embraces new areas like genomics, epigenetics, and computational genetics, alongside its continued coverage of traditional subjects such as transcriptional regulation, population genetics, and chromosome biology. Despite expanding its scope, the core objective of TiG remains steadfast: to furnish researchers and students with high-quality, innovative reviews, commentaries, and discussions, fostering an appreciation for advances in genetic research. Each issue of TiG presents lively and up-to-date Reviews and Opinions, alongside shorter articles like Science & Society and Spotlight pieces. Invited from leading researchers, Reviews objectively chronicle recent developments, Opinions provide a forum for debate and hypothesis, and shorter articles explore the intersection of genetics with science and policy, as well as emerging ideas in the field. All articles undergo rigorous peer-review.