Anthony D. Schmitt

This study uses FFPE-compatible Hi-C to detect enhancer-hijacking rearrangements in lymphoid cancers, identifying clinically relevant drivers missed by standard methods.

The paper describes a comprehensive genomic dataset from a tumor-normal pair with broad consent, generated using multiple sequencing technologies for benchmarking somatic variant detection.

The paper maps chromatin interactions in mouse fetal tissues and links them to gene expression and disease risk variants in humans.

This paper identifies a new function of MYOD as a transcriptional repressor through E-box-independent chromatin binding, revealing a mechanism to repress gene expression and maintain cell identity during myogenesis.

This study shows that Decitabine suppresses tumour growth in ER+ breast cancer by inducing DNA hypomethylation and altering 3D chromatin structure.

The paper evaluates sequencing and assembly methods to create high-quality diploid human genome assemblies, finding that long reads and haplotype sorting improve accuracy and completeness.

The paper investigates epigenomic and 3D chromatin conformation changes in human frontal cortex and hippocampus development using sn-m3C-seq, finding distinct chromatin conformations in neurons and glial cells and linking risk variants to regulatory regions.

The paper benchmarks DNA preservation methods for long-read and long-range sequencing across vertebrates, finding that optimal methods vary by taxa, tissue, and application.

The paper presents a gapless, telomere-to-telomere assembly of the human X chromosome using ultra-long-read nanopore sequencing and complementary technologies.

This study identifies DNA sequence variants that influence 3D chromatin conformation and links them to gene expression and disease risk.

The paper introduces SALSA2, a Hi-C scaffolder that improves accuracy by using assembly graphs to correct inversion errors in chromosome-scale genome assemblies.

The paper investigates how genetic and epigenetic factors influence chromatin looping strength across cell types and haplotypes, finding that loop strength changes correlate with significant gene expression differences.