Learning objectives

1. To learn how large biobank data identify age-related mosaic chromosome alterations, using female X loss to illustrate their origins and impacts.
2. To understand how biobank studies uncover underdiagnosed sex chromosome trisomies and refine our knowledge of their roles in health and disease.
3. To explore global collaborative efforts investigating mosaic autosomal alterations, including scientific rationale, study designs, and ongoing progress.

Speaker biography

Aoxing Liu is a quantitative geneticist by training and currently a research fellow in Mark Daly’s lab at Broad Institute of MIT and Harvard. With research experience spanning four countries, Aoxing collaborates widely with international scientific communities. Since 2020, Aoxing has taken the lead in the global effort to investigate the chromosomal origins and phenotypic consequences of chromosome aneuploidies, including mosaic chromosome alterations and germline trisomies. Additionally, Aoxing studies disease inheritance patterns using large human pedigrees. Thus far, these works have resulted in multiple first- and corresponding-author publications in Nature, Nature Human Behavior, Nature Reviews Cancer, Cell Genomics, and AJHG.