Valentín Ruano-Rubio
Researcher Next ID · RN-019660
Researcher · Biochemistry, Genetics and Molecular Biology
Cambridge, Peru
- Works count
- 32
- Citation count
- 30,436
- H-index
- 22
- i10-index
- 28
Research interests
Publications
Author Correction: A genomic mutational constraint map using variation in 76,156 human genomes
Nature · 2024 · 10.1038/s41586-024-07050-7
A genomic mutational constraint map using variation in 76,156 human genomes
Nature · 2023 · https://doi.org/10.1038/s41586-023-06045-0
A genome-wide mutational constraint map quantified from variation in 76,156 human genomes
bioRxiv (Cold Spring Harbor Laboratory) · 2022 · 10.1101/2022.03.20.485034
Addendum: The mutational constraint spectrum quantified from variation in 141,456 humans
Nature · 2021 · 10.1038/s41586-021-03758-y
Author Correction: The mutational constraint spectrum quantified from variation in 141,456 humans
Nature · 2021 · 10.1038/s41586-020-03174-8
Author Correction: The mutational constraint spectrum quantified from variation in 141,456 humans
Nature · 2021 · 10.1038/s41586-020-03174-8
Characterising the loss-of-function impact of 5’ untranslated region variants in 15,708 individuals
Nature Communications · 2020 · 10.1038/s41467-019-10717-9
Landscape of multi-nucleotide variants in 125,748 human exomes and 15,708 genomes
Nature Communications · 2020 · https://doi.org/10.1038/s41467-019-12438-5
Evaluating drug targets through human loss-of-function genetic variation
Nature · 2020 · 10.1038/s41586-020-2267-z
Evaluating drug targets through human loss-of-function genetic variation
Nature · 2020 · 10.1038/s41586-020-2267-z
The effect of LRRK2 loss-of-function variants in humans
Nature Medicine · 2020 · 10.1038/s41591-020-0893-5
The effect of LRRK2 loss-of-function variants in humans
Nature Medicine · 2020 · 10.1038/s41591-020-0893-5
Transcript expression-aware annotation improves rare variant interpretation
Nature · 2020 · 10.1038/s41586-020-2329-2
A structural variation reference for medical and population genetics
Nature · 2020 · https://doi.org/10.1038/s41586-020-2287-8
The mutational constraint spectrum quantified from variation in 141,456 humans
bioRxiv (Cold Spring Harbor Laboratory) · 2019 · https://doi.org/10.1101/531210
Scaling accurate genetic variant discovery to tens of thousands of samples
bioRxiv (Cold Spring Harbor Laboratory) · 2017 · https://doi.org/10.1101/201178
Analysis of protein-coding genetic variation in 60,706 humans
Nature · 2016 · https://doi.org/10.1038/nature19057
Multiple populations of artemisinin-resistant Plasmodium falciparum in Cambodia
Nature Genetics · 2013 · 10.1038/ng.2624
Analysis of Plasmodium falciparum diversity in natural infections by deep sequencing
Nature · 2012 · 10.1038/nature11174
Current projects
No projects listed.