界定和追求人类基因研究的多样性

IF 31.7 1区生物学 Q1 GENETICS & HEREDITY Nature genetics Pub Date : 2024-09-09 DOI:10.1038/s41588-024-01903-7

Maili C. Raven-Adams, Tina Hernandez-Boussard, Yann Joly, Bartha Maria Knoppers, Subhashini Chandrasekharan, Adrian Thorogood, Judit Kumuthini, Calvin Wai Loon Ho, Ariana Gonzlez, Sarah C. Nelson, Yvonne Bombard, Donrich Thaldar, Hanshi Liu, Alessia Costa, Vijaytha Muralidharan, Sasha Henriques, Jamal Nasir, Aimé Lumaka, Beatrice Kaiser, Saumya Shekhar Jamuar, Anna C. F. Lewis

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摘要

关于在遗传学研究中使用更多样化数据的呼吁通常无法提供进一步的指导。在此，我们总结了全球基因组学与健康联盟（Global Alliance for Genomics and Health）旨在填补这一空白的政策框架。该框架促使研究人员考虑需要哪些类型的多样性及其原因，以及如何通过在整个数据生命周期中所做的选择来实现目标。

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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Defining and pursuing diversity in human genetic studies

Calls for more diverse data in genetics studies typically fall short of offering further guidance. Here we summarize a policy framework from the Global Alliance for Genomics and Health designed to fill this gap. The framework prompts researchers to consider both what types of diversity are needed and why, and how aims can be achieved through choices made throughout the data life cycle.

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来源期刊

Nature genetics 生物-遗传学

CiteScore

43.00

自引率

2.60%

发文量

241

审稿时长

3 months

期刊介绍： Nature Genetics publishes the very highest quality research in genetics. It encompasses genetic and functional genomic studies on human and plant traits and on other model organisms. Current emphasis is on the genetic basis for common and complex diseases and on the functional mechanism, architecture and evolution of gene networks, studied by experimental perturbation. Integrative genetic topics comprise, but are not limited to: -Genes in the pathology of human disease -Molecular analysis of simple and complex genetic traits -Cancer genetics -Agricultural genomics -Developmental genetics -Regulatory variation in gene expression -Strategies and technologies for extracting function from genomic data -Pharmacological genomics -Genome evolution