Xiaoxu Yang is an Assistant Professor and computational biologist with a decade of experience developing methods to detect and interpret genomic mosaicism across human tissues. Her lab combines experimental assays and machine learning—most notably DeepMosaic, a control-independent CNN classifier—to reveal somatic and germline mosaic variants that illuminate development, disease, and inheritance. Her work has traced human cortical development, uncovered sperm-borne mutation risks linked to miscarriages and congenital disorders, and identified pathogenic somatic mutations in cortical malformations, with findings published in Nature, Nature Genetics, Cell, and more. She brings a rare blend of hands-on wet-lab assay development (PASM/MPAS) and bioinformatics innovation, plus a track record of building the first noncancer mosaic knowledge base to aid clinical interpretation. Based in Salt Lake City and trained at Peking University, she translates deep genomic signals into actionable insights for genetics and clinical counseling.
10 years of coding experience
15 years of employment as a software developer
Bachelor of Science - BS, Biology/Biological Sciences, General, Bachelor of Science - BS, Biology/Biological Sciences, General at Beijing Normal University
Doctor of Philosophy (PhD), Bioinformatics, Doctor of Philosophy (PhD), Bioinformatics at Peking University
This repository collects pipelines, codes, and some intermediate results for the study of mosaic SNV/Indels for sperm, blood, and other samples of a control cohort.
Contributions:1 release, 103 commits, 10 PRs in 2 years 1 month
indelspipeline-frameworkbloodmosaicanaconda
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