The Genetics Podcast

EP 130: Quarterly insights into noncoding variants and GWAS with Dr. Veera Rajagopal

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Episode notes

Show Notes: 

0:00 Introduction

1:20 How polydactyl mutations can inform research on non-coding variant mechanisms

16:30 Long non-coding RNA (lncRNA) variants associated with the neurodevelopmental disorder (NDD) gene CHD2

28:00 A non-coding variant explaining the high prevalence of Brugada syndrome in South-East Asians (one of Veera’s personal favourite stories)

41:00 The future of large scale genome-wide association studies
  • A recent massive GWAS on type 2 diabetes clustering the variants of disease mechanisms 
  • A recent paper published in Nature Medicine that shows differences in the lipodystrophy clusters between East Asians and Europeans:
  • How type 2 diabetes manifests differently across ethnic groups, potentially influencing personalised treatment strategies

55:20 Closing remarks

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