15
Publications
27.5K
Citations
14
H-Index
2007
Active since
Valentín Ruano-Rubio is an author at Broad Institute specializing in medicine, genetics, and genomics.
Top concepts
MedicineGeneticsGenomicsBioinformaticsPopulation GeneticsPublic HealthMolecular EcologyFunctional GenomicsEvolutionary BiologyStatistical Genetics
Publications per year
2007–2023
15
15
Analysis of protein-coding genetic variation in 60,706 humans
Monkol Lek, Konrad J. Karczewski, Eric Vallabh Minikel et al. · Nature · 2016 · 10.1K citations · Full text
Phenotypic Variation, Protein-coding Genetic Variation, Genetics +5
The mutational constraint spectrum quantified from variation in 141,456 humans
Konrad J. Karczewski, Laurent C. Francioli, Grace Tiao et al. · Nature · 2020 · 9.6K citations · Full text
Scaling accurate genetic variant discovery to tens of thousands of samples
Ryan Poplin, Valentín Ruano-Rubio, Mark A. DePristo et al. · 2017 · 2K citations · Full text
The mutational constraint spectrum quantified from variation in 141,456 humans
Konrad J. Karczewski, Laurent C. Francioli, Grace Tiao et al. · 2019 · 1.8K citations · Full text
A genomic mutational constraint map using variation in 76,156 human genomes
Siwei Chen, Laurent C. Francioli, Julia K. Goodrich et al. · Nature · 2023 · 1.1K citations · Full text
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