Francisco Tanudjaja

This paper develops a method to predict Lp(a) levels from genomic data, combining SNV risk scores and KIV-2 repeat counts, and shows it improves risk prediction for cardiovascular disease in diverse populations.

The paper uses symptom-based case predictions to conduct a GWAS on COVID-19, finding new genetic susceptibility insights and suggesting different genetic architectures for severity and susceptibility.

Allele frequencies for homoplasmic and heteroplasmic mitochondrial variants across 195,983 sequenced genomes leave 47% of the mitochondrial genome invariant and put 42% of reported LHON variants in doubt.

The paper analyzes rare variants in 54,000 exomes across 3,166 phenotypes, identifying 78 gene-based associations with significant effects on human traits.