David Roazen
Broad Institute(US)UCLA Medical Center(US)Harbor–UCLA Medical Center(US)
Publications by Year
Research Areas
Genomics and Rare Diseases, Genomics and Phylogenetic Studies, Genomic variations and chromosomal abnormalities, Genomics and Chromatin Dynamics, Genetic Associations and Epidemiology
Most-Cited Works
- → The mutational constraint spectrum quantified from variation in 141,456 humans(2020)9,854 cited
- → From FastQ Data to High‐Confidence Variant Calls: The Genome Analysis Toolkit Best Practices Pipeline(2013)7,118 cited
- → Scaling accurate genetic variant discovery to tens of thousands of samples(2017)2,070 cited
- → A genomic mutational constraint map using variation in 76,156 human genomes(2023)1,193 cited
- → A structural variation reference for medical and population genetics(2020)1,131 cited
- → A genome-wide mutational constraint map quantified from variation in 76,156 human genomes(2022)324 cited
- → Transcript expression-aware annotation improves rare variant interpretation(2020)200 cited
- → Characterising the loss-of-function impact of 5’ untranslated region variants in 15,708 individuals(2020)189 cited
- → Author Correction: A genomic mutational constraint map using variation in 76,156 human genomes(2024)166 cited