Priyanka Nakka

Genomic ascertainment of CHEK2-related cancer predisposition

This study quantifies cancer risk and penetrance in CHEK2 heterozygotes using genomic data from two large biobanks, finding increased risks for several cancers and younger age of onset.

Computationally efficient meta-analysis of gene-based tests using summary statistics in large-scale genetic studies

The paper introduces REMETA, a tool for efficiently performing meta-analysis of gene-based tests using summary statistics, demonstrating its application on UK Biobank data.

Genes with Specificity for Expression in the Round Cell Layer of the Growth Plate are Enriched in GWAS of Human Height

The paper links GWAS height loci to genes specifically expressed in the round cell layer of the growth plate, showing significant associations after conditioning on other layers and known skeletal disorder genes.

Characterization of prevalence and health consequences of uniparental disomy in four million individuals from the general population

The paper characterizes the prevalence and health consequences of uniparental disomy in four million individuals, identifying 675 cases and linking UPD of chromosome 22 to autism.

pong: fast analysis and visualization of latent clusters in population genetic data

pong provides a fast and accurate method for analyzing latent clusters in population genetic data, offering interactive visualization and outperforming existing tools.