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Showing 1–7 of 7 results

Advanced filters: Author: Anjene Musick Clear advanced filters

Selection, optimization and validation of ten chronic disease polygenic risk scores for clinical implementation in diverse US populations

A new study from the eMERGE consortium provides insights on the development of a pipeline for the generation and reporting of polygenic risk scores for ten diseases to diverse populations in a clinical setting.

Niall J. Lennon
Leah C. Kottyan
Eimear E. Kenny
ResearchOpen Access19 Feb 2024
Nature Medicine

Volume: 30, P: 480-487
Biobanking with genetics shapes precision medicine and global health

Biobanks help centralize specimen collections, store and disseminate data, and facilitate large-scale analyses. This Review discusses how biobanks facilitate genetics research towards advancing precision medicine and overviews potential solutions to their current limitations.

C. Scott Gallagher
Geoffrey S. Ginsburg
Anjené Musick
Reviews20 Nov 2024
Nature Reviews Genetics

Volume: 26, P: 191-202
Demonstrating paths for unlocking the value of cloud genomics through cross cohort analysis

The emergence of large-scale genomics projects has led to genetic studies across cohorts. Here, the authors conduct genome-wide association studies meta-analyzing in trusted research environments or pooling together and find similar, but not identical results.

Nicole Deflaux
Margaret Sunitha Selvaraj
Alexander G. Bick
ResearchOpen Access05 Sept 2023
Nature Communications

Volume: 14, P: 1-10
Genomic data in the All of Us Research Program

A study describes the release of clinical-grade whole-genome sequence data for 245,388 diverse participants by the All of Us Research Program and characterizes the properties of the dataset.

Alexander G. Bick
Ginger A. Metcalf
Joshua C. Denny
ResearchOpen Access19 Feb 2024
Nature

Volume: 627, P: 340-346
The frequency of pathogenic variation in the All of Us cohort reveals ancestry-driven disparities

A comparison of the frequency of pathogenic mutations in 73 genes in the All of Us cohort highlights the differences in pathogenic variation attributed to ancestry.

Eric Venner
Karynne Patterson
Miriam Vos
ResearchOpen Access19 Feb 2024
Communications Biology

Volume: 7, P: 1-11
A common flanking variant is associated with enhanced stability of the FGF14-SCA27B repeat locus

Analysis of the FGF14-SCA27B repeat locus identifies a common 5′-flanking insertion that represents the major allele, is present exclusively on nonpathogenic alleles, enhances repeat stability and increases chromatin accessibility.

David Pellerin
Giulia F. Del Gobbo
Matt C. Danzi
Research27 Jun 2024
Nature Genetics

Volume: 56, P: 1366-1370
Author Correction: The frequency of pathogenic variation in the All of Us cohort reveals ancestry-driven disparities

Eric Venner
Karynne Patterson
Miriam Vos
Amendments and CorrectionsOpen Access10 Jun 2024
Communications Biology

Volume: 7, P: 1