Stephen M. Eacker

Evaluation of Genomic Proximity Mapping (GPM) for Detecting Genomic and Chromosomal Structural Variants in Constitutional Disorders

This study evaluates Genomic Proximity Mapping (GPM) for detecting structural variants in constitutional disorders, showing high concordance and resolution compared to standard methods.

Development and extensive sequencing of a broadly-consented Genome in a Bottle matched tumor-normal pair

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.

Spatially Organized IGF1 mTOR Signaling Controls Human Forebrain Progenitor Fate Through Coordinated Transcriptional and Translational Programs

This study identifies a spatially organized IGF1-mTOR signaling mechanism in human forebrain progenitors that regulates proliferation and fate through transcriptional and translational control.

Genetic and functional characterization of inherited complex chromosomal rearrangements in a family with multisystem anomalies

The paper characterizes an inherited complex chromosomal rearrangement in a family with multisystem anomalies using multiple genomic and functional analyses.

Accurate viral genome reconstruction and host assignment with proximity-ligation sequencing

The paper develops a platform using proximity-ligation sequencing to reconstruct viral genomes and assign hosts from metagenomic data, showing high accuracy and efficiency.

Advancing the genetic utility of pre-clinical species through a high-quality assembly of the cynomolgus monkey (Macaca fascicularis) genome

The paper presents a high-quality, chromosome-level genome assembly for the cynomolgus monkey using long-read sequencing technologies, improving genetic understanding and enabling better biomedical research.

Experience-dependent translational state defined by cell type-specific ribosome profiling

The paper introduces TRiP, a method for cell type-specific ribosome profiling, and shows experience-induced changes in translation in mouse CA1 pyramidal cells.