Sang Hyuck Lee

Genome-wide genetic overlap between fear-based disorders and generalised anxiety disorder

This study identifies genetic differences between fear-based anxiety disorders and generalised anxiety disorder using GWAS, finding partial genetic distinction and shared liability to internalising psychopathology.

A Genes & Health pilot recall study of intrahepatic cholestasis of pregnancy and cholestatic liver disease

This pilot study identifies British South Asians at high risk of cholestatic liver disease through genetic and phenotypic recall, finding 66.7% of participants had undetected liver disease.

Genome-wide meta-analysis of panic attacks and disorder identifies genetic risk factors and implicates multiple body systems in panic and other psychiatric disorders

This study identifies genetic risk factors for panic attacks and disorder through genome-wide meta-analysis and links them to multiple body systems and neuronal functions.

Investigating the performance of Oxford Nanopore long-read sequencing with respect to Illumina microarrays and short-read sequencing

This study compares Oxford Nanopore long-read sequencing with Illumina short-read sequencing and microarrays across 14 human genomes, finding LRS has competitive accuracy for SNVs and superior performance for structural variants.

GWAS meta-analysis of psoriasis identifies new susceptibility alleles impacting disease mechanisms and therapeutic targets

This study performs a GWAS meta-analysis of psoriasis, identifying 109 susceptibility loci, including 45 new ones, and highlights potential therapeutic targets and disease mechanisms.

Investigating misclassification of type 1 diabetes in a population-based cohort of British Pakistanis and Bangladeshis using polygenic risk scores

This study estimates that ~6% of insulin-treated diabetic individuals with ambiguous features in British Pakistanis and Bangladeshis have T1D, highlighting the need for autoantibody and C-peptide testing.

The genetic dissection of fetal haemoglobin persistence in sickle cell disease in Nigeria

This paper conducts a genome-wide association study in Nigerian sickle cell disease patients to identify genetic variants associated with fetal hemoglobin levels, finding significant associations at BCL11A and HBS1L-MYB and novel signals in the Nigerian cohort.

Investigating the genetic relationship between depression symptoms and Alzheimer's disease in clinically diagnosed and proxy cases

This study investigates the genetic relationship between depression symptoms and Alzheimer's disease using GWAS and finds significant genetic correlations but no causal link, suggesting proxy cases may drive the overlap.

PIK3R3 is a candidate regulator of platelet count in people of Bangladeshi ancestry

The paper identifies PIK3R3 as a candidate regulator of platelet count in Bangladeshi ancestry individuals through GWAS and functional analysis.

COPILOT: a Containerised wOrkflow for Processing ILlumina genOtyping daTa

COPILOT automates GWAS quality control for Illumina genotyping data, improving sample call rates and identifying data issues across two cohorts.

Transcriptomic analysis of probable asymptomatic and symptomatic Alzheimer brains

This study compares transcriptomic profiles of asymptomatic and symptomatic Alzheimer's brains to identify early molecular changes associated with disease vulnerability.

Psychiatric risk gene NT5C2 regulates protein translation in human neural progenitor cells

This study identifies NT5C2 as a psychiatric risk gene, showing its role in protein translation and AMPK signaling in neural progenitor cells and Drosophila melanogaster.