Taejeong Bae

This study characterizes somatic mutations in urine-derived iPSCs, showing they reflect age-related genomic changes and can trace developmental lineages non-invasively.

This study corrects a pathogenic ATAD3A variant in iPSCs using CRISPR-Cas9-induced gene conversion without donor templates, showing high efficiency and dependence on HR proteins.

The paper traces germline origin in humans using post-zygotic mutations, finding a balanced 50:50 lineage allocation from the first two blastomeres across generations.

The paper shows that clonally selected CRISPR-edited cell lines acquire many culture-specific mutations, making them non-isogenic, and recommends comparing multiple edited and unedited line mixes.

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.

All2 filters mosaic mutations from multi-cell comparisons by classifying variants as germline, mosaic, or false positive, improving sensitivity and reducing false positives in whole genome and exome analysis.

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

The paper identifies prenatal mutational processes in schizophrenia brains linked to transcription factor binding sites and proposes a new term 'skiagenesis' for these mutations.

This study identifies somatic SNVs in non-cancerous human brain tissues and establishes best practices for detecting low-frequency variants.

The paper tracks cell lineages in humans using post-zygotic mutations and finds lineage imbalance and correlations with developmental axes.

The paper introduces a machine learning method to detect somatic L1 insertions in human brain tissue, revealing their widespread distribution in neurons and glia and potential role in neuropsychiatric diseases.

CompStor Novos provides fast and precise variant calling for personal genomes using assembly-based methods on standard hardware, outperforming existing algorithms in speed and accuracy.