Skip to content

Updates citation in README #679

New issue

Have a question about this project? Sign up for a free GitHub account to open an issue and contact its maintainers and the community.

Sign up for GitHub

By clicking “Sign up for GitHub”, you agree to our terms of service and privacy statement. We’ll occasionally send you account related emails.

Already on GitHub? Sign in to your account

Merged
MattWellie merged 2 commits into from
Jun 26, 2026
Merged

Updates citation in README #679

Changes from all commits
Commits
Show all changes
2 commits
Select commit Hold shift + click to select a range
4a6be74
update citation in README
MattWellie Jun 26, 2026
bd4a7fe
oops one more
MattWellie Jun 26, 2026
File filter

Filter by extension

Filter by extension
Conversations
Failed to load comments.
Loading
Jump to
Jump to file
Failed to load files.
Loading
Diff view
Diff view
16 changes: 8 additions & 8 deletions README.md
View file
Open in desktop
Original file line number Diff line number Diff line change
Expand Up @@ -15,9 +15,9 @@ While Talos can be used for one-off reanalysis of individual families or cohorts

Talos is specifically intended to identify **variants in established disease genes that are likely to explain the participant’s condition**. It is not designed to detect novel candidate genes or to interpret variants of uncertain significance outside the context of existing clinical knowledge. This focus improves specificity and supports use in diagnostic and research reanalysis workflows.

A full description of the method and its validation in large clinical and research cohorts is available in our preprint:
A full description of the method and its validation in large clinical and research cohorts is available in our publication in Nature Medicine:

[**https://www.medrxiv.org/content/10.1101/2025.05.19.25327921**](https://www.medrxiv.org/content/10.1101/2025.05.19.25327921)
[**https://www.nature.com/articles/s41591-026-04477-5**](https://www.nature.com/articles/s41591-026-04477-5)

---

Expand Down Expand Up @@ -270,18 +270,18 @@ Each module can be configured through the `.toml` config file (see [Configuratio

If you use Talos in your research or clinical workflow, please cite:

> Welland MJ, Ahlquist KD, De Fazio P, et al. _Scalable automated reanalysis of genomic data in research and clinical rare disease cohorts._ medRxiv 2025.05.19.25327921; https://doi.org/10.1101/2025.05.19.25327921
> Welland MJ, Ahlquist KD, De Fazio P, et al. _Scalable automated reanalysis of genomic data in research and clinical rare disease cohorts._ Nat Med (2026). https://doi.org/10.1038/s41591-026-04477-5


BibTeX:

```
@article{welland2025talos,
@article{welland2026talos,
title = {Scalable automated reanalysis of genomic data in research and clinical rare disease cohorts},
author = {Welland, Matthew J and Ahlquist, KD and De Fazio, Paul and Austin-Tse, Christina and Pais, Lynn and Wedd, Laura and Bryen, Samantha and Rius, Rocio and Franklin, Michael and Hall, Giles and et al.},
journal = {medRxiv},
year = {2025},
doi = {10.1101/2025.05.19.25327921},
url = {https://www.medrxiv.org/content/10.1101/2025.05.19.25327921},
journal = {Nature Medicine},
year = {2026},
doi = {10.1038/s41591-026-04477-5},
url = {https://doi.org/10.1038/s41591-026-04477-5},
}
```
Loading