Defining and pursuing diversity in human genetic studies

Maili C. Raven-Adams; Tina Hernandez-Boussard,; Yann Joly; Bartha Maria Knoppers; Subhashini Chandrasekharan; Adrian Thorogood; Judit Kumuthini; Calvin  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

doi:10.1038/s41588-024-01903-7

Defining and pursuing diversity in human genetic studies

Maili C. Raven-Adams, Tina Hernandez-Boussard,, Yann Joly, Bartha Maria Knoppers, Subhashini Chandrasekharan, Adrian Thorogood, Judit Kumuthini, Calvin 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 JamuarAnna C. F. Lewis

Science

Research output: Contribution to Journal › Comment/Debate

Abstract

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 highlights that diverse data is always a means to an end, and that appropriate focus on these ends should prompt researchers to consider both what types of diversity are needed and why, and how these ends can be achieved via choices made throughout the data lifecycle.

Original language	English
Pages (from-to)	1985–1988
Number of pages	4
Journal	Nature Genetics
Volume	56
Early online date	9 Sept 2024
DOIs	https://doi.org/10.1038/s41588-024-01903-7
Publication status	Published - 1 Oct 2024

Keywords

genetic research
population genetics

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Raven-Adams_et_al_2024_Defining_and_pursuing_diversity_in_human_genetic_studiesAccepted author manuscript, 384 KBLicence: CC BY-NC

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Raven-Adams, M. C., Hernandez-Boussard, T., Joly, Y., Knoppers, B. M., Chandrasekharan, S., Thorogood, A., Kumuthini, J., Ho, C., Gonzlez, A., Nelson, S. C., Bombard, Y., Thaldar, D., Liu, H., Costa, A., Muralidharan, V., Henriques, S., Nasir, J., Lumaka, A., Kaiser, B., ... Lewis, A. C. F. (2024). Defining and pursuing diversity in human genetic studies. Nature Genetics, 56, 1985–1988. https://doi.org/10.1038/s41588-024-01903-7

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abstract = "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 highlights that diverse data is always a means to an end, and that appropriate focus on these ends should prompt researchers to consider both what types of diversity are needed and why, and how these ends can be achieved via choices made throughout the data lifecycle. ",

keywords = "genetic research, population genetics",

author = "Raven-Adams, {Maili C.} and Tina Hernandez-Boussard, and Yann Joly and Knoppers, {Bartha Maria} and Subhashini Chandrasekharan and Adrian Thorogood and Judit Kumuthini and Calvin Ho and Ariana Gonzlez and Nelson, {Sarah C.} and Yvonne Bombard and Donrich Thaldar and Hanshi Liu and Alessia Costa and Vijaytha Muralidharan and Sasha Henriques and Jamal Nasir and Aim{\'e} Lumaka and Beatrice Kaiser and Jamuar, {Saumya Shekhar} and Lewis, {Anna C. F.}",

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doi = "10.1038/s41588-024-01903-7",

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Raven-Adams, MC, Hernandez-Boussard, T, Joly, Y, Knoppers, BM, Chandrasekharan, S, Thorogood, A, Kumuthini, J, Ho, C, Gonzlez, A, Nelson, SC, Bombard, Y, Thaldar, D, Liu, H, Costa, A, Muralidharan, V, Henriques, S, Nasir, J, Lumaka, A, Kaiser, B, Jamuar, SS & Lewis, ACF 2024, 'Defining and pursuing diversity in human genetic studies', Nature Genetics, vol. 56, pp. 1985–1988. https://doi.org/10.1038/s41588-024-01903-7

TY - JOUR

T1 - Defining and pursuing diversity in human genetic studies

AU - Raven-Adams, Maili C.

AU - Hernandez-Boussard,, Tina

AU - Joly, Yann

AU - Knoppers, Bartha Maria

AU - Chandrasekharan, Subhashini

AU - Thorogood, Adrian

AU - Kumuthini, Judit

AU - Ho, Calvin

AU - Gonzlez, Ariana

AU - Nelson, Sarah C.

AU - Bombard, Yvonne

AU - Thaldar, Donrich

AU - Liu, Hanshi

AU - Costa, Alessia

AU - Muralidharan, Vijaytha

AU - Henriques, Sasha

AU - Nasir, Jamal

AU - Lumaka, Aimé

AU - Kaiser, Beatrice

AU - Jamuar, Saumya Shekhar

AU - Lewis, Anna C. F.

PY - 2024/10/1

Y1 - 2024/10/1

N2 - 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 highlights that diverse data is always a means to an end, and that appropriate focus on these ends should prompt researchers to consider both what types of diversity are needed and why, and how these ends can be achieved via choices made throughout the data lifecycle.

AB - 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 highlights that diverse data is always a means to an end, and that appropriate focus on these ends should prompt researchers to consider both what types of diversity are needed and why, and how these ends can be achieved via choices made throughout the data lifecycle.

KW - genetic research

KW - population genetics

U2 - 10.1038/s41588-024-01903-7

DO - 10.1038/s41588-024-01903-7

M3 - Comment/Debate

SN - 1061-4036

VL - 56

SP - 1985

EP - 1988

JO - Nature Genetics

JF - Nature Genetics

ER -

Defining and pursuing diversity in human genetic studies

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Keywords

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