Clive Hoggart

Sibling Similarity Can Reveal Key Insights Into Genetic Architecture

This paper uses sibling data to infer genetic architecture of extreme trait values, distinguishing between polygenic and rare variant influences.

Striking Departures from Polygenic Architecture in the Tails of Complex Traits

The paper identifies departures from polygenic architecture in the tails of complex traits, showing rare alleles are more prevalent and impactful in extreme trait values.

BridgePRS: A powerful trans-ancestry Polygenic Risk Score method

BridgePRS improves polygenic risk score accuracy in non-European populations by leveraging shared genetic effects across ancestries, outperforming existing methods in simulated and real data.

EraSOR: Erase Sample Overlap in polygenic score analyses

EraSOR addresses sample overlap in polygenic score analyses by adjusting for inflation in PRS prediction and association statistics, improving robustness in the presence of inter-cohort overlap.

Massively parallel reporter assays combined with cell-type specific eQTL informed multiple melanoma loci and identified a pleiotropic function of HIV-1 restriction gene, MX2, in melanoma promotion

The paper identifies multiple melanoma susceptibility genes and variants by integrating MPRA with eQTL data, revealing MX2's role in melanoma promotion.

npInv: accurate detection and genotyping of inversions mediated by non-allelic homologous recombination using long read sub-alignment

npInv detects and genotypes NAHR inversions using long read sub-alignment, identifying 30 inversions in NA12878 with 94% accuracy, including 15 novel ones.

PReMS: Parallel Regularised Regression Model Search for sparse bio-signature discovery

PReMS identifies sparse biomarker signatures for disease diagnosis and prognosis by comparing model performance with LASSO and SCAD algorithms.