Annina Preussner

Phenome-wide scan of Y-chromosomal variants against 1,426 traits in 104,334 Finnish men finds no significant hits; kin-based validation supports haplogroup I1 increasing coronary heart disease risk.

This paper introduces a Y-chromosomal ancestral-like reference sequence (Y-ARS) to improve the detection of evolutionarily informative variants on the human Y chromosome, showing it captures more consistent and derived variants compared to existing references.

The study analyzes Y-chromosome sequencing data from Finland to identify sublineages and geographic patterns within major haplogroups, suggesting dual migration routes for haplogroup N1a1.