A novel phenotype-guided genome analysis pipeline for variant discovery

Layla Ahmed, Erika Tavares, Janice Min Li, Kashif Ahmed, Maanik Mehta, Christabel Eileen, Genevieve Ah-Sen, Rahma Osman, Kit Green-Sanderson, Anna Dvaladze, Graeme Nimmo, Ashish R. Deshwar, Tara Paton, Guillermo Casallo, Christian R. Marshall, Elise Heon, Ajoy Vincent

Open source

DOI
10.1038/s41525-026-00557-0
Published
2026-03-28
Container
npj Genomic Medicine
Publisher
Springer Science and Business Media LLC
Open access
unknown

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BibTeX

@article{allodium:10.1038/s41525-026-00557-0,
  title = {A novel phenotype-guided genome analysis pipeline for variant discovery},
  author = {Layla Ahmed and Erika Tavares and Janice Min Li and Kashif Ahmed and Maanik Mehta and Christabel Eileen and Genevieve Ah-Sen and Rahma Osman and Kit Green-Sanderson and Anna Dvaladze and Graeme Nimmo and Ashish R. Deshwar and Tara Paton and Guillermo Casallo and Christian R. Marshall and Elise Heon and Ajoy Vincent},
  year = {2026},
  journal = {npj Genomic Medicine},
  doi = {10.1038/s41525-026-00557-0},
  url = {https://doi.org/10.1038/s41525-026-00557-0}
}

RIS

TY  - JOUR
TI  - A novel phenotype-guided genome analysis pipeline for variant discovery
AU  - Layla Ahmed
AU  - Erika Tavares
AU  - Janice Min Li
AU  - Kashif Ahmed
AU  - Maanik Mehta
AU  - Christabel Eileen
AU  - Genevieve Ah-Sen
AU  - Rahma Osman
AU  - Kit Green-Sanderson
AU  - Anna Dvaladze
AU  - Graeme Nimmo
AU  - Ashish R. Deshwar
AU  - Tara Paton
AU  - Guillermo Casallo
AU  - Christian R. Marshall
AU  - Elise Heon
AU  - Ajoy Vincent
PY  - 2026
JO  - npj Genomic Medicine
DO  - 10.1038/s41525-026-00557-0
UR  - https://doi.org/10.1038/s41525-026-00557-0
ER  - 

APA

Ahmed, L., Tavares, E., Li, J. M., Ahmed, K., Mehta, M., Eileen, C., Ah-Sen, G., Osman, R., Green-Sanderson, K., Dvaladze, A., Nimmo, G., Deshwar, A. R., Paton, T., Casallo, G., Marshall, C. R., Heon, E., & Vincent, A. (2026). A novel phenotype-guided genome analysis pipeline for variant discovery. npj Genomic Medicine. https://doi.org/10.1038/s41525-026-00557-0

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