Whole genome sequencing of pre-treatment and post-treatment locally advanced rectal cancer using long and short read technologies
Lauren McAuley, Lydia O’Sullivan, Liam Grogan, Adrian Murphy, Christina Skourou, Brendan Curran, Deborah McNamara, Joanna Fay, Brian O’Neill, Bryan T. Hennessy, Sinead Toomey, Simon J. Furney · 2026
Read Whole genome sequencing of pre-treatment and post-treatment locally advanced rectal cancer using long and short read technologies by Lauren McAuley, Lydia O’Sullivan, Liam Grogan, Adrian Murphy, Christina Skourou, Brendan Curran, Deborah McNamara, Joanna Fay, Brian O’Neill, Bryan T. Hennessy, Sinead Toomey, Simon J. Furney (2026) in the Tower of Babel, a free online library of public-domain works preserved in clean, searchable text. No sign-up. The full text is served as a plain-text file at a predictable URL, where text is present: https://antarctic-labs.com/tower-of-babel/pmc-13473079.txt.
Description
Lauren McAuley and eleven colleagues ran a 2026 pilot that sequenced the whole genome of one rectal cancer patient before and after treatment. The 37-year-old patient had locally advanced rectal cancer that did not respond to chemotherapy and radiation given before surgery. Tumour samples from both time points, nearby normal tissue, and a blood sample were read with short-read Illumina sequencing and long-read nanopore sequencing, with the latter also revealing chemical marks on DNA.
Agreement between the two methods was mixed, with single-letter changes matching in 69.4 percent of pre-treatment calls but only 30.1 percent after treatment. Copy-number patterns were closely similar, while structural changes barely matched at all, and tumour purity, repetitive DNA, and strand bias helped explain the mismatches. Tumours showed lower overall DNA methylation than normal tissue. The pilot warns that long- and short-read results cannot simply be swapped.
Catalog record
| CREATOR | Lauren McAuley, Lydia O’Sullivan, Liam Grogan, Adrian Murphy, Christina Skourou, Brendan Curran, Deborah McNamara, Joanna Fay, Brian O’Neill, Bryan T. Hennessy, Sinead Toomey, Simon J. Furney |
|---|---|
| YEAR | 2026 |
| COLLECTION | PAPERS |
| FORMAT | TXT |
| FILE SIZE | 63 KB |
| VERSION | 1.0 |
| LICENSE | CC BY 4.0 |
| RIGHTS | CC BY |
| SOURCE | Europe PMC |