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Human centromeres harbor extensive structural variation that has remained largely inaccessible to human genetics because their repetitive -satellite arrays are absent from standard reference and imputation panels. Here we catalog 188,589 centromeric structural variants (SVs) from haplotype-resolved long-read assemblies...
Breast cancer affects approximately one in eight US women during their lifetime, and about 10% of new cases occur before age 45. Polygenic risk scores (PRS) are associated with breast cancer risk, and previous studies have evaluated PRS alongside pathogenic-variant carrier status. Whether a continuous, gene-effect-weig...
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