Skip to content

Author

K. Ardlie

We have 7 of 23 papers

We haven’t gathered this author’s papers yet. Follow them and we’ll fetch their work.

Not the right person? Other researchers publish under this name.

Open access Oct 2026

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

Mutation detection was degraded in post-mortem samples, and it is shown that combining ~200× coverage across tissues from a donor is a feasible strategy for detecting developmental mutations shared across tissues.

Yeongjun Jang, Stephanie Gardiner, Yifan Wang et al. · 2 citations
Open access Sep 2026

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.

Kai-Li Fan, Amrita Sule, A. Guillaumet-Adkins et al. · 0 citations
Review Open access Oct 2026

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

A workshop concluded that NAMs hold considerable promise to advance the assessment of pediatric drug developmental safety, within the framework of the S11 Nonclinical Safety Testing In Support of Development of Pediatric Pharmaceuticals and E11A Pediatric Extrapolation guidances.

G. Burckart, Gelareh A. Abulwerdi, Christin L. Daniels et al. · 1 citation
#gene editing Open access Sep 2026

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...

Chun-Jie Guo, U. Arora, Xiao-Heng Cheng et al. · 0 citations
Open access Jul 2026

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.

Peter Orchard, T. Blackwell, L. Kachuri et al. · 0 citations

We use cookies to run the site and, with your consent, for analytics and to show ads. See our Cookie Policy.