Eivind J. Hovig

Genomic impact of the second plague pandemic on three human populations

This study analyzes ancient DNA from three European sites to assess the genomic impact of the second plague pandemic, finding no strong positive selection but evidence of reduced long-range immigration post-pandemic.

The Norwegian Mother, Father, and Child cohort study (MoBa) genotyping data resource: MoBaPsychGen pipeline v.1

The paper describes the MoBaPsychGen pipeline for quality controlling and imputing genotyping data from the MoBa cohort, identifying extensive family relationships across 207,569 individuals.

CANCAN: high-resolution copy number and mutation heterogeneity analysis of DNA sequence data for clinical applications

The paper introduces CANCAN, a computational framework for analyzing copy number and mutation heterogeneity in DNA sequencing data, showing high concordance with existing methods and improved performance on targeted sequencing data.

MirGeneDB 3.0: Improved taxonomic sampling, uniform nomenclature of novel conserved microRNA families, and updated covariance models.

MirGeneDB 3.0 updates the microRNA gene database with expanded species coverage, refined nomenclature, and improved covariance models for phylogenetic analysis.

External validation of prognostic and predictive gene signatures in head and neck cancer patients

The paper externally validates five gene signatures in head and neck cancer patients, showing their prognostic and predictive value for treatment outcomes.

Finemap-MiXeR: A variational Bayesian approach for genetic finemapping

Finemap-MiXeR improves genetic finemapping accuracy by using a variational Bayesian approach, outperforming existing methods in synthetic and real data.

StarSignDNA: Signature tracing for accurate representation of mutational processes

StarSignDNA is an algorithm for mutational signature analysis in cancer sequencing data, improving accuracy and biological validity by addressing overfitting and underfitting.

immuneML: an ecosystem for machine learning analysis of adaptive immune receptor repertoires

immuneML provides an open-source ecosystem for reproducible and interoperable machine learning analysis of adaptive immune receptor repertoires, demonstrating its utility through benchmarking and novel methods.

Cancer Predisposition Sequencing Reporter (CPSR): a flexible variant report engine for high-throughput germline screening in cancer

CPSR generates structured reports of germline variants in cancer predisposition genes using ACMG criteria, with customizable gene panels and actionable findings.

The genetic structure of Norway

This study examines the genetic structure of the Norwegian population, identifying two distinct genetic regions and highlighting the impact of geography on migration patterns and ancestry.

Accuracy and efficiency of germline variant calling pipelines for human genome data

This study compares three germline variant calling pipelines for WGS data, finding DRAGEN and DeepVariant offer better accuracy with no significant difference in F1-score, while DRAGEN provides higher efficiency.

Paternally expressed imprinted Snord116 and Peg3 regulate hypothalamic orexin neurons

This study investigates the role of the paternally expressed Snord116 gene in hypothalamic orexin neurons and its impact on sleep and metabolic functions in mice with paternal deletion of Snord116.

MirGeneDB 2.0: The metazoan microRNA complement

MirGeneDB 2.0 expands curated microRNA gene annotations to 45 metazoan species, revealing many false positives and missing miRNAs in previous annotations.

Sample-Index Misassignment Impacts Tumor Exome Sequencing

The paper shows that sample-index misassignment in tumor exome sequencing can create false somatic variant calls and recommends dual indexing to prevent this.

Personal Cancer Genome Reporter: Variant Interpretation Report For Precision Oncology

The paper introduces a tool for interpreting cancer genomes by generating prioritized variant reports for clinical use.

Genome Build Information Is An Essential Part Of Genomic Track Files

The paper highlights the importance of including genome build information in genomic track files and provides a tool to predict missing build versions.