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.· American Journal of Human Ge...· 2 citations
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.
Y.-J. Ha, Dominika Maziec, J. Markowski et al.· Cell Genomics· 3 citations
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.· bioRxiv· 0 citations
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.· Clinical pharmacology and th...· 1 citation
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.· Nature· 0 citations
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.· Science· 0 citations