Benjamin Goudey

Fine mapping of HLA effects in Oral and non-Oral lichen planus

This paper performs fine-mapping of HLA effects in lichen planus subtypes, identifying specific HLA haplotypes associated with increased or decreased risk in oral and non-oral forms.

A novel haplotype-based eQTL approach identifies genetic associations not detected through conventional SNP-based methods

The paper introduces eQTLHap, a haplotype-based eQTL method that detects genetic associations missed by SNP-based approaches, finding 22 replicated associations in real datasets.

Evaluation of consensus strategies for haplotype phasing

This study evaluates consensus strategies for haplotype phasing, finding that combining multiple phasing tools reduces switch error and improves accuracy across populations and datasets.

Improved HLA-based prediction of coeliac disease identifies two novel HLA risk modifiers, DQ6.2 and DQ7.3

The paper improves HLA-based prediction of coeliac disease by identifying two novel risk modifiers, DQ6.2 and DQ7.3, and develops a new risk score with better predictive performance.

UKBCC: a cohort curation package for UK Biobank

UKBCC is a Python tool for rapidly constructing cohorts from UK Biobank data by querying heterogeneous and distributed sources.

A blood-based signature of cerebral spinal fluid Aβ1-42 status

This paper develops a blood-based machine learning model to predict cerebral spinal fluid Aβ1-42 levels, showing high accuracy in identifying Alzheimer's disease risk.

A hybrid approach for automated mutation annotation of the extended human mutation landscape in scientific literature

This paper introduces an automated mutation annotator that covers an extended mutation landscape, achieving F1 performance comparable to human annotation.

Epistasis within the MHC contributes to the genetic architecture of celiac disease

This study identifies epistatic interactions within the MHC region that contribute to celiac disease risk, finding 20 significant signals independent of known HLA haplotypes.