Robert J. M. Eveleigh

Finding an optimal sequencing strategy to detect short and long genetic variants in a human genome

This paper benchmarks sequencing technologies and variant callers for detecting SNPs, indels, and SVs, finding that SRS is optimal for small variants while LRS excels in SV detection and complex regions.

WEGS: a cost-effective sequencing method for genetic studies combining high-depth whole exome and low-depth whole genome

WEGS combines low-depth whole genome and high-depth whole exome sequencing to reduce costs while maintaining variant detection accuracy in genetic studies.

Rare splice and missense variants with evidence of pathogenicity in consanguineous families with autosomal recessive intellectual disability from Pakistan

precisionFDA Truth Challenge V2: Calling variants from short- and long-reads in difficult-to-map regions

The paper evaluates variant calling in difficult genomic regions using short- and long-read sequencing, showing improved performance with new methods and multi-technology approaches.

Distinct pancreatic and neuronal Lung Carcinoid molecular subtypes revealed by integrative omic analysis

The paper identifies two molecular subtypes of Lung Carcinoids using integrative omic analysis and describes their distinct genetic and epigenetic features.

Failure to replicate the association of rare loss-of-function variants in type I IFN immunity genes with severe COVID-19

The paper investigates the association of rare loss-of-function variants in type I IFN immunity genes with severe COVID-19 and finds no significant association.

GenPipes: an open-source framework for distributed and scalable genomic analyses

GenPipes provides a scalable framework for genomic analyses, offering pre-built pipelines and flexibility for custom workflows.

Deleterious genetic variants in NOTCH1 are a major contributor to the incidence of non-syndromic Tetralogy of Fallot

The paper identifies NOTCH1 variants as a major genetic contributor to non-syndromic Tetralogy of Fallot, with 6% of patients carrying deleterious variants.