E. Christopher Partridge

Comparative atlas of genome-wide chromatin-associated protein co-occupancy

The paper identifies cell type-specific and shared chromatin-associated protein co-association modules using ChIP-Seq and machine learning in K562 and HepG2 cells.

Deleterious, protein-altering variants in the X-linked transcriptional coregulator ZMYM3 in 22 individuals with a neurodevelopmental delay phenotype

The paper identifies ZMYM3 variants in 22 individuals with neurodevelopmental delay, showing recurrent mutations, phenotypic overlap, and functional effects, supporting ZMYM3 as a novel NDD gene.

Genome-wide strand asymmetry in massively parallel reporter activity favors genic strands

The paper shows that MPRA data exhibit strand asymmetry favoring naturally transcribed strands, suggesting biological functions driving this effect across gene bodies and Alu elements.

Long-read genome sequencing for the diagnosis of neurodevelopmental disorders

This paper uses long-read genome sequencing to identify pathogenic variants in neurodevelopmental disorders, finding clinically relevant structural variants in two of six probands.

Dissecting the regulatory activity and sequence content of loci with exceptional numbers of transcription factor associations

The paper identifies and characterizes HOT loci with high DAP associations, finds driver motifs, and shows their regulatory importance through mutagenesis.

Identifying rare, medically-relevant genetic variation in a diverse population: opportunities and pitfalls

The paper evaluates genomic screening in Alabama, finding 51% of identified variants were false positives, with higher rates in African-Americans due to alternative alleles.

Occupancy patterns of 208 DNA-associated proteins in a single human cell type

The paper presents ChIP-seq data for 208 DNA-associated proteins in HepG2 cells, revealing occupancy patterns and DNA motifs, and distinguishing promoters from enhancers.