John V. Moran

A phylogenetic estimate of canine retrotransposition rates based on genome assembly comparisons

The paper estimates retrotransposition rates in dogs using genome assembly comparisons, finding higher SINEC rates than human Alu elements but LINE-1 rates within human ranges.

An Alternative DNA Endonuclease Activity is Associated with the LINE-1 ORF2-encoded Protein

The paper identifies an alternative endonuclease activity in L1 ORF2p that enables EN-independent retrotransposition.

Identification of a minimal Alu domain required for retrotransposition

The paper identifies a 46 nucleotide domain in Alu RNA essential for retrotransposition by enabling SRP9/14 binding and ribosomal association.

Variable patterns of retrotransposition in different HeLa strains provide mechanistic insights into SINE RNA mobilization processes

The paper shows HeLa strains differ in Alu retrotransposition efficiency, with distinct mechanisms for SINE RNA mobilization involving ORF2p.

Mapping the Complex Genetic Landscape of Human Neurons

The paper identifies and validates copy number variants in single human neurons using a new method, revealing nonrandom CNV locations and complex karyotypes in a subset of neurons.

The interferon stimulated gene-encoded protein HELZ2 inhibits human LINE-1 retrotransposition and LINE-1 RNA-mediated type I interferon induction

The paper identifies HELZ2 as an ISG protein that inhibits LINE-1 retrotransposition and reduces IFN- induction by interacting with L1 RNA and ORF1p.

DeepMosaic: Control-independent mosaic single nucleotide variant detection using deep convolutional neural networks

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.

Comprehensive identification of somatic nucleotide variants in human brain tissue

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

Long-read assembly of a Great Dane genome highlights the contribution of GC-rich sequence and mobile elements to canine genomes

The paper assembles a Great Dane genome using long-read sequencing, revealing improvements over the Boxer-derived reference and highlighting retrotransposon activity in canine genetic variation.

Machine learning reveals bilateral distribution of somatic L1 insertions in human neurons and glia

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.