Tim H. H. Coorens

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.

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 telomere-to-telomere map of somatic mutation burden and functional impact in a cancer

SUMMARY Cancer genomes harbor extensive somatic genetic and epigenetic variation, yet large portions of the genome remain inaccessible to conventional reference-based analyses. Here, we demonstrate that pairing a near-telomere-to-telomere (T2T) diploid assembly of a donor with deep short- and long-read sequencing of th...

The next 25 years of cancer research: emerging perspectives and priorities

Integrated map of somatic mosaicism across human tissues in 25 individuals

The first integrated analysis of the Somatic Mosaicism across Human Tissues (SMaHT) Network’s production resource is presented, profiling up to 20 tissues from 25 donors using short- and long-read, duplex, single-cell, transcriptomic, and epigenomic sequencing, alongside donor-specific near-telomere-to-telomere assembl...