Analysis of rare coding variants in 470,000 exome-sequenced subjects characterises contributions to risk of type 2 diabetes

In spite of the very large sample size, no novel genes are implicated. Coding variants with an identifiable effect are collectively too rare be generally useful for guiding treatment choices for most patients. The finding that some nonsynonymous variants in GCK affect T2D risk is novel but not unexpected and does not have obvious practical implications. This research has been conducted using the UK Biobank Resource.

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Publication Details

Journal
PLoS ONE
Published
2024-12-12
DOI
https://doi.org/10.1371/journal.pone.0311827
Citations
2
Primary Topic
Genomics and Rare Diseases
Type
article
Field-Weighted Citation Impact
1.10

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article

Analysis of rare coding variants in 470,000 exome-sequenced subjects characterises contributions to risk of type 2 diabetes

David Curtis
2 citations
PLoS ONE
Genomics and Rare Diseases
1.10
article

Analysis of rare coding variants in 470,000 exome-sequenced subjects characterises contributions to risk of type 2 diabetes

David Curtis
article en
2 citations

Abstract

In spite of the very large sample size, no novel genes are implicated. Coding variants with an identifiable effect are collectively too rare be generally useful for guiding treatment choices for most patients. The finding that some nonsynonymous variants in GCK affect T2D risk is novel but not unexpected and does not have obvious practical implications. This research has been conducted using the UK Biobank Resource.

PLoS ONEVol. 19(12)
University College London (GB)
University College London
Openalex Percentile: Top 18%
Genomics and Rare Diseases
1.10
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