Author

Christopher W. Whelan

Broad InstituteORCID 0000-0001-8446-8468Unclaimed ORCID profile · follow to get notified of new preprints

Biology Disciplines

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Signature Assays, Organisms & Methods

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Organism:human· 4 Approach:statistical model· 4 Assay:whole-genome sequencing· 3 Assay:GWAS summary statistics· 2 Research Focus:variant calling· 2 Approach:benchmark study· 1 Research Focus:benchmarking· 1 Research Focus:database / resource· 1

Frequent Co-Authors

Anne O’Donnell‐LuriaiD· 2 shared Ben WeisburdiD· 2 shared Charlotte Tolonen· 2 shared Chelsea LowtheriD· 2 shared Christine R. StevensiD· 2 shared Daniel G. MacArthuriD· 2 shared Elise ValkanasiD· 2 shared Harrison BrandiD· 2 shared

Activity by Year

2019-2020 · peak 3/yr

Co-Author Collaboration Network

10 top collaborators · 45 mutual co-author links

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2 shared papersGenomics

Anne O’Donnell‐LuriaORCID

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Author profile →

4 papers

Recent·Most cited

Systematic evaluation of genome sequencing for the assessment of fetal structural anomalies

Chelsea Lowther, Elise Valkanas, Jessica L. Giordano, Harold Z. Wang, Benjamin Currall, Kathryn O’Keefe, Emma Pierce‐Hoffman, Nehir Edibe Kurtas, Christopher W. Whelan, Stephanie P. Hao, Ben Weisburd, Vahid Jalili, Jack M. Fu, Isaac Wong, Ryan L. Collins, , Michael E. Talkowski

This study evaluates genome sequencing as a single diagnostic approach for fetal structural anomalies, showing it detects nearly all variants from standard tests and provides higher diagnostic yield than individual tests.

bioRxiv · Aug 12, 2020 · PreprintGenomics

Insights into dispersed duplications and complex structural mutations from whole genome sequencing 706 families

Christopher W. Whelan, Robert E. Handsaker, Giulio Genovese, Seva Kashin, Monkol Lek, Jason D. Hughes, Joshua J. McElwee, Michael J. Lenardo, Daniel G. MacArthur, Steven A. McCarroll

The paper identifies dispersed duplications and de novo structural mutations using whole-genome sequencing data from 706 families by analyzing IBD relationships and copy number variations.

bioRxiv · Aug 3, 2020 · PreprintGenomics

An open resource of structural variation for medical and population genetics

Ryan L. Collins, Harrison Brand, Konrad J. Karczewski, Xuefang Zhao, Jessica Alföldi, Laurent C. Francioli, Amit V. Khera, Chelsea Lowther, Laura Doyle Gauthier, Harold Wang, Nicholas A. Watts, Matthew Solomonson, Anne O’Donnell‐Luria, Alexander Baumann, Ruchi Munshi, , Adolfo Correa

Short-read genome sequencing of 14,891 diverse genomes yields 433,371 structural variants (SVs) for gnomAD; loss-constrained genes also resist duplication, and clinical SV carrier rates are benchmarked.

Nature · May 27, 2020Peer-reviewedGenomics✦ In-depth digest

Complement component 4 genes contribute sex-specific vulnerability in diverse illnesses

Nolan Kamitaki, Aswin Sekar, Robert E. Handsaker, Heather de Rivera, Katherine Tooley, David Lester Morris, Kimberly E. Taylor, Christopher W. Whelan, Philip Tombleson, Loes M. Olde Loohuis, Michael Boehnke, Robert P. Kimberly, Kenneth M. Kaufman, John B. Harley, Carl D. Langefeld, , Steven A. McCarroll

This study identifies C4 genes in the MHC locus as sex-specific contributors to risk for lupus, Sjogrens syndrome, and schizophrenia, with stronger effects in men than women.

bioRxiv · Sep 9, 2019 · PreprintGenetics