Yosef E. Maruvka

Breaking the sparsity barrier in clinical targeted-panel sequencing: Mapping the inherited determinants of mutational signatures

This paper introduces GroupSig, a framework to overcome sparsity in clinical targeted-panel sequencing data, identifying inherited determinants of mutational signatures in cancer.

Systematic inference of mutation rates and spectra across the tree of life via a scalable read-based framework

The paper introduces CORAL, a scalable framework to infer mutation rates and spectra across species, revealing variation linked to life-history traits and identifying evolutionary mutational signatures.

Genome-wide data from medieval German Jews show that the Ashkenazi founder event pre-dated the 14th century

The paper analyzes genome-wide data from medieval German Jews to show the Ashkenazi founder event occurred before the 14th century, with genetic heterogeneity not present in modern Ashkenazi Jews.

Unique genomic features and deeply-conserved functions of long non-coding RNAs in the Cancer LncRNA Census (CLC)

The paper introduces the Cancer LncRNA Census (CLC), a curated resource of lncRNAs with causative roles in cancer, and shows their genomic and evolutionary features.

Integrative pathway enrichment analysis of multivariate omics data

ActivePathways integrates multivariate omics data to identify enriched pathways, revealing cancer driver genes and prognostic pathways in breast cancer.

Somatic Truth Data from Cell Lineage

The paper introduces a benchmark dataset of validated somatic mutations derived from cell lineage, providing a large collection of true somatic variation for use in mutation discovery pipelines.

Discovery and characterization of coding and non-coding driver mutations in more than 2,500 whole cancer genomes

The paper identifies and characterizes coding and non-coding driver mutations across 2,500 cancer genomes, revealing new candidates and questioning previous findings.