Eamonn Richard Maher

The paper describes the development of variant classification specifications for the VHL gene using ACMG/AMP guidelines, resulting in updated evidence codes and improved classification consistency.

The paper performs whole exome sequencing on 44,028 British South Asians to identify gene-phenotype associations and knockout genes, finding novel links and implications for drug development.

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.

The paper quantifies phenotypic specificity of rare FH variants in HLRCC and renal cancer using likelihood ratios from clinical and population data.

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 paper develops a framework for classifying variants of reduced penetrance in cancer susceptibility genes to improve variant interpretation consistency.

This study uses whole-genome sequencing in a national healthcare system to diagnose rare diseases and discover new aetiological variants, identifying 95 Mendelian associations and 4 novel non-coding disease-causing variants.

MethylCal is a Bayesian tool that calibrates methylation levels by jointly analyzing CpGs in DMRs or CpG islands, improving accuracy in methylation quantification and clinical applications.

Telomerecat estimates telomere length from whole-genome sequencing data without requiring prior knowledge of ploidy, showing good performance and detecting expected patterns in various data types.

The paper estimates the human mutation rate using autozygous segments from 3,222 British-Pakistani individuals, finding a lower mutation rate than previous estimates and population-specific mutational patterns.