Automated reanalysis of genomic data for rare disease diagnostics at scale

Matthew J. Welland, K. D. Ahlquist, Paul De Fazio, Christina Austin-Tse, Lynn Pais, Laura Wedd, Samantha Bryen, Rocio Rius, Michael Franklin, Caitlin Morrison, Giles Hall, Laura Gauthier, Alex Bloemendal, David I. Francis, Andrew J. Mallett, Amali Mallawaarachchi, Paul J. Lockhart, Richard Leventer, Ingrid E. Scheffer, Katherine B. Howell, Karin S. Kassahn, Hamish S. Scott, Julie McGaughran, John Christodoulou, David R. Thorburn, Bryony A. Thompson, Chirag V. Patel, Greg Smith, Anne O’Donnell-Luria, Simon Sadedin, Heidi L. Rehm, Sebastian Lunke, Jeremiah Wander, Kaitlin E. Samocha, Cas Simons, Daniel G. MacArthur, Zornitza Stark

Open source

DOI
10.1038/s41591-026-04477-5
Published
2026-06-24
Container
Nature Medicine
Publisher
Springer Science and Business Media LLC
Open access
unknown

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BibTeX

@article{allodium:10.1038/s41591-026-04477-5,
  title = {Automated reanalysis of genomic data for rare disease diagnostics at scale},
  author = {Matthew J. Welland and K. D. Ahlquist and Paul De Fazio and Christina Austin-Tse and Lynn Pais and Laura Wedd and Samantha Bryen and Rocio Rius and Michael Franklin and Caitlin Morrison and Giles Hall and Laura Gauthier and Alex Bloemendal and David I. Francis and Andrew J. Mallett and Amali Mallawaarachchi and Paul J. Lockhart and Richard Leventer and Ingrid E. Scheffer and Katherine B. Howell and Karin S. Kassahn and Hamish S. Scott and Julie McGaughran and John Christodoulou and David R. Thorburn and Bryony A. Thompson and Chirag V. Patel and Greg Smith and Anne O’Donnell-Luria and Simon Sadedin and Heidi L. Rehm and Sebastian Lunke and Jeremiah Wander and Kaitlin E. Samocha and Cas Simons and Daniel G. MacArthur and Zornitza Stark},
  year = {2026},
  journal = {Nature Medicine},
  doi = {10.1038/s41591-026-04477-5},
  url = {https://doi.org/10.1038/s41591-026-04477-5}
}

RIS

TY  - JOUR
TI  - Automated reanalysis of genomic data for rare disease diagnostics at scale
AU  - Matthew J. Welland
AU  - K. D. Ahlquist
AU  - Paul De Fazio
AU  - Christina Austin-Tse
AU  - Lynn Pais
AU  - Laura Wedd
AU  - Samantha Bryen
AU  - Rocio Rius
AU  - Michael Franklin
AU  - Caitlin Morrison
AU  - Giles Hall
AU  - Laura Gauthier
AU  - Alex Bloemendal
AU  - David I. Francis
AU  - Andrew J. Mallett
AU  - Amali Mallawaarachchi
AU  - Paul J. Lockhart
AU  - Richard Leventer
AU  - Ingrid E. Scheffer
AU  - Katherine B. Howell
AU  - Karin S. Kassahn
AU  - Hamish S. Scott
AU  - Julie McGaughran
AU  - John Christodoulou
AU  - David R. Thorburn
AU  - Bryony A. Thompson
AU  - Chirag V. Patel
AU  - Greg Smith
AU  - Anne O’Donnell-Luria
AU  - Simon Sadedin
AU  - Heidi L. Rehm
AU  - Sebastian Lunke
AU  - Jeremiah Wander
AU  - Kaitlin E. Samocha
AU  - Cas Simons
AU  - Daniel G. MacArthur
AU  - Zornitza Stark
PY  - 2026
JO  - Nature Medicine
DO  - 10.1038/s41591-026-04477-5
UR  - https://doi.org/10.1038/s41591-026-04477-5
ER  -

APA

Welland, M. J., Ahlquist, K. D., Fazio, P. D., Austin-Tse, C., Pais, L., Wedd, L., Bryen, S., Rius, R., Franklin, M., Morrison, C., Hall, G., Gauthier, L., Bloemendal, A., Francis, D. I., Mallett, A. J., Mallawaarachchi, A., Lockhart, P. J., Leventer, R., Scheffer, I. E., Howell, K. B., Kassahn, K. S., Scott, H. S., McGaughran, J., Christodoulou, J., Thorburn, D. R., Thompson, B. A., Patel, C. V., Smith, G., O’Donnell-Luria, A., Sadedin, S., Rehm, H. L., Lunke, S., Wander, J., Samocha, K. E., Simons, C., MacArthur, D. G., & Stark, Z. (2026). Automated reanalysis of genomic data for rare disease diagnostics at scale. Nature Medicine. https://doi.org/10.1038/s41591-026-04477-5

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