Predicting disease variants using biodiversity and machine learning

Claudia Arnedo-Pac¹, Nuria Lopez-Bigas^{2

3

4}, Ferran Muiños¹

Affiliations

¹ Institute for Research in Biomedicine (IRB Barcelona), Barcelona Institute of Science and Technology, Barcelona, Spain.
² Institute for Research in Biomedicine (IRB Barcelona), Barcelona Institute of Science and Technology, Barcelona, Spain. nuria.lopez@irbbarcelona.org.
³ Research Program on Biomedical Informatics, Universitat Pompeu Fabra, Barcelona, Spain. nuria.lopez@irbbarcelona.org.
⁴ Institució Catalana de Recerca i Estudis Avançats (ICREA), Barcelona, Spain. nuria.lopez@irbbarcelona.org.

Comment

Claudia Arnedo-Pac et al. Nat Biotechnol. 2022 Jan.

. 2022 Jan;40(1):27-28.

doi: 10.1038/s41587-021-01187-w.

Claudia Arnedo-Pac¹, Nuria Lopez-Bigas^{2

3

4}, Ferran Muiños¹

¹ Institute for Research in Biomedicine (IRB Barcelona), Barcelona Institute of Science and Technology, Barcelona, Spain.
² Institute for Research in Biomedicine (IRB Barcelona), Barcelona Institute of Science and Technology, Barcelona, Spain. nuria.lopez@irbbarcelona.org.
³ Research Program on Biomedical Informatics, Universitat Pompeu Fabra, Barcelona, Spain. nuria.lopez@irbbarcelona.org.
⁴ Institució Catalana de Recerca i Estudis Avançats (ICREA), Barcelona, Spain. nuria.lopez@irbbarcelona.org.

No abstract available

Comment on

Disease variant prediction with deep generative models of evolutionary data.
Frazer J, Notin P, Dias M, Gomez A, Min JK, Brock K, Gal Y, Marks DS. Frazer J, et al. Nature. 2021 Nov;599(7883):91-95. doi: 10.1038/s41586-021-04043-8. Epub 2021 Oct 27. Nature. 2021. PMID: 34707284

1. Frazer, J. et al. Nature 599, 91–95 (2021). - DOI
1. Landrum, M. J. et al. Nucleic Acids Res. 48, D835–D844 (2020). - DOI
1. Ng, P. C. & Henikoff, S. Genome Res. 11, 863–874 (2001). - DOI
1. Reva, B., Antipin, Y. & Sander, C. Nucleic Acids Res. 39, e118 (2011). - DOI
1. Adzhubei, I., Jordan, D. M. & Sunyaev, S. R. Curr. Protoc. Hum. Genet. 7, 7.20 (2013).