Author

Rick H. Ulloa

Regeneron (United States)

Listed by name: these papers carry no ORCID for this author, so different people with the same name may be mixed together.

Biology Disciplines

Click to filter author papers

Bioinformatics· 1 Genomics· 1

Signature Assays, Organisms & Methods

Click to filter · or open tag

Approach:statistical model· 2 Research Focus:variant calling· 2 Assay:whole-exome sequencing· 2 Research Focus:GWAS / association mapping· 1 Organism:human· 1

Frequent Co-Authors

Alexander E. LopeziD· 2 shared Aris BarasiD· 2 shared Claudia G. Gonzaga-JaureguiiD· 2 shared Colm T. O’DushlaineiD· 2 shared Evan K. MaxwelliD· 2 shared Frederick E. Dewey· 2 shared Jeffrey C. StaplesiD· 2 shared Jeffrey G. ReidiD· 2 shared

Activity by Year

2017-2017 · peak 2/yr

Co-Author Collaboration Network

10 top collaborators · 45 mutual co-author links

Click any collaborator node to inspect or filter shared papers

Focal author (center)Selected co-authorORCID co-authorUnlinked name

Curved chords = mutual co-authorship

2 shared papersBioinformatics

Alexander E. LopezORCID

Mutual co-authors in cluster

Author profile →

2 papers

Recent·Most cited

KaryoScan: abnormal karyotype detection from whole-exome sequence

Evan K. Maxwell, Claudia G. Gonzaga-Jauregui, Shane McCarthy, Colm T. O’Dushlaine, Jeffrey C. Staples, Alexander E. Lopez, Xiaodong Bai, John Penn, Rick H. Ulloa, Omri Gottesman, Aris Baras, Frederick E. Dewey, John D. Overton, Erik G. Puffenberger, Lukas Habegger, Jeffrey G. Reid

KaryoScan detects chromosomal anomalies from whole-exome sequencing, identifying aneuploidies and complex rearrangements in large cohorts.

bioRxiv · Oct 17, 2017 · PreprintBioinformatics

Profiling copy number variation and disease associations from 50,726 DiscovEHR Study exomes

Evan K. Maxwell, Jonathan S. Packer, Colm T. O’Dushlaine, Shane McCarthy, Abby E. Hare-Harris, Jeffrey C. Staples, Claudia G. Gonzaga-Jauregui, Samantha N. Fetterolf, W. Andrew Faucett, Joseph B. Leader, Andrés Moreno-De-Luca, Giusy Della Gatta, Margaret E. Scollan, Trikaldarshi Persaud, John Penn, , Jeffrey G. Reid

The paper identifies and analyzes exonic copy number variants (CNVs) in 50,726 DiscovEHR participants, linking them to clinical traits and phenotypes.

bioRxiv · Mar 22, 2017 · PreprintGenomics