Stefan Blankenberg

The paper analyzes genetic variation in the LPA gene using short-read sequencing to predict LP(a) concentration, finding allele-specific KIV-2 CN provides better prediction than total CN.

This study compares WGS pipelines, finding DRAGEN outperforms GATK in speed and accuracy for variant calling and mapping.

This study performs a large GWAS on dilated cardiomyopathy, identifying two new loci and confirming two existing ones, with potential therapeutic implications.

The paper analyzes rare coding variants in smoking and drinking behavior using exome chip data, finding that they contribute to phenotypic variation but require larger samples for individual variant associations.

This paper introduces SAPPHO methods to detect pleiotropy in GWAS by modeling shared patterns of genetic associations, finding 16 additional and 124 novel loci in meta-analysis.

This study identifies 47 novel genetic loci associated with PR interval through genome-wide association meta-analysis across multiple populations.

This study examines the metabolic effects of alcohol consumption in young adults, finding associations with multiple cardiometabolic risk markers and a complex metabolic signature.