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David Roazen | Researchclopedia

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David Roazen

Broad Institute

23

Works

24,513

Citations

16

h-index

17

i10-index

Research Topics

Genomics and Rare Diseases Genomics and Phylogenetic Studies Genomic variations and chromosomal abnormalities

Affiliations

Broad Institute2013–2025

UCLA Medical Center2025–2025

Harbor–UCLA Medical Center2025–2025

Analysis Group (United States)2013–2013

Top Works

The mutational constraint spectrum quantified from variation in 141,456 humans

Konrad J. Karczewski,Laurent C. Francioli,et al.

20209,878 citations

Genomics and Chromatin Dynamics

Genetic Associations and Epidemiology

From FastQ Data to High‐Confidence Variant Calls: The Genome Analysis Toolkit Best Practices Pipeline

Geraldine Van Der Auwera,Mauricio O. Carneiro,et al.

20137,124 citations

Scaling accurate genetic variant discovery to tens of thousands of samples

Ryan Poplin,Valentín Ruano-Rubio,et al.

20172,074 citations

The mutational constraint spectrum quantified from variation in 141,456 humans

Konrad J. Karczewski,Laurent C. Francioli,et al.

20191,767 citations

A genomic mutational constraint map using variation in 76,156 human genomes

Siwei Chen,Laurent C. Francioli,et al.

20231,200 citations

A structural variation reference for medical and population genetics

Ryan L. Collins,Harrison Brand,et al.

20201,137 citations

A genome-wide mutational constraint map quantified from variation in 76,156 human genomes

Siwei Chen,Laurent C. Francioli,et al.

2022324 citations

Transcript expression-aware annotation improves rare variant interpretation

Beryl B. Cummings,Konrad J. Karczewski,et al.

2020200 citations

Characterising the loss-of-function impact of 5’ untranslated region variants in 15,708 individuals

Nicola Whiffin,Konrad J. Karczewski,et al.

2020189 citations