Sarah B. Emery

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.

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 presents an improved long-read assembly of the dog reference genome, significantly enhancing contiguity and gene annotation.

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

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.

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.

SVelter reconstructs complex structural genomic rearrangements by iteratively rearranging genome regions and scoring them against sequencing data.