Xin Xu

This study identifies 69 mutated genes in malformations of cortical development using multiomic profiling of 317 brain resections and single-cell sequencing.

DeepMosaic detects mosaic single nucleotide variants without control samples using deep convolutional neural networks, achieving high accuracy and uncovering many variants missed by existing methods.

The paper assesses the transmission of de novo mutations from sperm to blastocysts in couples undergoing IVF and finds predictable but slightly under-transmitted mutations based on sperm mutational abundance.

The paper evaluates brain somatic mosaicism in the adult human to identify rules governing cellular distribution during embryogenesis.

The paper analyzes sperm mosaic mutations in healthy males, finding that many are stable over time and pose a lifelong transmission risk to offspring.