Xiaoxu Yang Email and Phone Number

NIH/NICHD K99 AwardeeDiscovered dorsally-derived inhibitory neurons in adult humans using naturally occurred genomic mosaic variants (Nature 2024)

Developed DeepMosaic, the first control-independent CNN classifier for mosaic SNV (Nature Biotechnology 2023).Found causal somatic mutations within and beyond the mTOR pathway in patients with malformations of cortical development (Nature Genetics 2023).Found that ~1 in 15 males carries clonal sperm mosaic mutations that might lead to 1 in 300 miscarriages and/or congenital disorders (Cell 2021), and validate the transmission to human embryos (eLife 2022).Used somatic mosaicism to trace cortical development and found that left-right separation in the human brain happens before the anterior-posterior division (Nature 2022).

Built MosaicBase, the first noncancer mosaic knowledge base (Genomics Proteomics, & Bioinformatics 2020) that would benefit genetic counseling and diagnosis.Demonstrated sperm mosaicism is the direct genetic risk for 5-20% of neurological and psychiatric disorders such as Dravet Syndrome (Scientific Reports 2017, Journal of Medical Genetics 2018), Rett Syndrome (Genetics in Medicine 2019), and Alternative Hemiplegia of Childhood (Clinical Genetics 2019).Described two types of mosaic mutations: ones are clonally shared between different tissues, and others are sample- or tissue-specific due to the stage of mutation and sampling strategies (PLoS Genetics 2017).Developed micro-droplet digital PCR (mddPCR) pipelines to detect non-cancer mosaic mutations (Human Mutation 2015).

Developed and benchmarked the prototype PASM amplicon sequencing methods on Ion Torrent PGM system.