Daniel Philip Gale

Mapping intronic mutational hotspots by in silico mutagenesis enables single antisense oligonucleotide correction of multiple variants

The paper identifies deep intronic mutational hotspots using in silico mutagenesis and demonstrates that a single antisense oligonucleotide can correct multiple variants causing X-linked Alport syndrome.

Genetic Evaluation of the Role of Galactose-Deficient IgA1 in IgA Nephropathy: Evidence from Association Testing and Mendelian Randomization

This paper investigates the causal role of Gd-IgA1 in IgA nephropathy using genetic association and Mendelian randomization analyses, finding no significant evidence for a causal relationship.

Rare disease gene association discovery from burden analysis of the 100,000 Genomes Project data

The paper identifies 88 novel rare disease-gene associations using a burden analysis framework on whole genome sequencing data from the 100,000 Genomes Project, with potential clinical impact for undiagnosed cases.

Common risk variants in AHI1 are associated with childhood steroid-sensitive nephrotic syndrome

This study identifies a novel genetic association between AHI1 variants and steroid-sensitive nephrotic syndrome in both Sri Lankan and European populations.

Mixed ancestry analysis of whole-genome sequencing identifies TBX5 and PTK7 as susceptibility genes for posterior urethral valves

Whole-genome sequencing of rare disease patients in a national healthcare system

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.

Telomerecat: A Ploidy-Agnostic Method For Estimating Telomere Length From Whole Genome Sequencing Data

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.