K. Ardlie

Accurate detection of sub-1% frequency somatic mutations by whole-genome sequencing.

Continuous advances in read accuracy have positioned bulk whole-genome sequencing as a promising approach for somatic mutation discovery in research and clinical settings, but its utility for detecting low-frequency mutations in high-coverage data has not been thoroughly assessed. We utilized an experimental design fea...

Detecting low-allele-fraction mosaic mutations: A multi-institution benchmarking with cell-line mixtures.

This work establishes a framework and best practices for reliably detecting low-VAF mutations in non-cancer tissues and provides a valuable resource for the community.

A single-nucleus multi-omic atlas of gene regulation across 21 adult human tissues

A single-nucleus multi-omic atlas comprising 459,856 transcriptomic and chromatin accessibility profiles from 21 adult human tissues across four donors, including paired measurements from 160,688 nuclei is presented.

Pediatric Developmental Safety Assessment and New Approach Methodologies: US FDA/Triangle CERSI Workshop Report.

Human genetics implicates a BACH2-NRF2 axis in fetal haemoglobin activation.

Human genetic studies have identified key regulators of fetal haemoglobin (HbF) expression, including BCL11A, resulting in therapeutic advances1-8. Yet the mechanisms by which HbF expression is activated remain incompletely understood9. Here we conduct a large multi-ancestry genome-wide association study of HbF levels...

Cross-cohort analysis of expression and splicing quantitative trait loci in TOPMed.

This work fine-mapped UK Biobank-derived genome-wide association study (GWAS) signals from 164 traits and identified e/sQTL colocalizations for 10,611 GWAS signals, including 7096 that colocalize with secondary e/sQTLs.

Systematic Integration of genomics with transcriptomics for the Study of Coronary Artery Disease and Subclinical Atherosclerosis