Liron Ganel

Rare protein-coding variation and the genetic architecture of height in >1.4 million individuals

This study identifies 207 height-associated genes using rare protein-altering variants from over 1.4 million individuals, showing large effect sizes and overlap with Mendelian height syndromes.

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.

Genome-wide association study of 1,391 plasma metabolites in 6,136 Finnish men identifies 303 novel signals and provides biological insights into human diseases

This study identifies 303 novel genetic signals associated with plasma metabolites in Finnish men, revealing biological insights into disease mechanisms.

Mitochondrial genome copy number measured by DNA sequencing in human blood is strongly associated with metabolic traits via cell-type composition differences

Association of Structural Variation with Cardiometabolic Traits in Finns

This study identifies 31 genome-wide significant associations between structural variations and cardiometabolic traits in Finns, including two novel loci with strong phenotypic effects.

The impact of structural variation on human gene expression

This study identifies structural variants (SVs) as significant contributors to gene expression, finding they are more frequent causal variants than previously estimated and have larger effect sizes.

SVScore: An Impact Prediction Tool For Structural Variation

SVScore predicts the functional impact of structural variations using aggregated pathogenicity scores, showing it identifies deleterious variants better than alternative methods.