Author

Chris Whelan

Broad Institute

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

Biology Disciplines

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Genomics· 2

Signature Assays, Organisms & Methods

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Organism:human· 2 Approach:statistical model· 2 Research Focus:variant calling· 2 Assay:whole-genome sequencing· 2 Research Focus:differential expression· 1 Research Focus:software / tool· 1 Assay:whole-exome sequencing· 1

Frequent Co-Authors

Alba Sanchis-Juan· 1 shared Alexander GuseviD· 1 shared Amanda GarzaiD· 1 shared Ami Levy‐Moonshine· 1 shared Benjamin M. NealeiD· 1 shared Brian D. CromptoniD· 1 shared Daniel G. MacArthuriD· 1 shared David E. KlingiD· 1 shared

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2018-2025 · peak 1/yr

Co-Author Collaboration Network

10 top collaborators · 20 mutual co-author links

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1 shared paperGenomics

Alba Sanchis-Juan

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2 papers

Recent·Most cited

Rare germline structural variants increase risk for pediatric solid tumors

Riaz Gillani, Ryan L. Collins, Jett Crowdis, Amanda Garza, Jill K. Jones, Mark Walker, Alba Sanchis-Juan, Chris Whelan, Emma Pierce‐Hoffman, Michael E. Talkowski, Harrison Brand, Kevin M. Haigis, Jaclyn LoPiccolo, Saud H. AlDubayan, Alexander Gusev, , Eliezer M. Van Allen

This study identifies rare germline structural variants as risk factors for pediatric solid tumors, particularly neuroblastoma, by analyzing genome sequencing data from affected children and controls.

Science · Jan 2, 2025Peer-reviewedGenomics

Scaling accurate genetic variant discovery to tens of thousands of samples

Ryan E. Poplin, Valentín Ruano-Rubio, Mark A. DePristo, Tim J. Fennell, Mauricio O. Carneiro, Geraldine A. Van der Auwera, David E. Kling, Laura Doyle Gauthier, Ami Levy‐Moonshine, David Roazen, Khalid Shakir, Joel Thibault, Sheila Chandran, Chris Whelan, Monkol Lek, , Eric Banks

Per-sample assembly with gVCF output, followed by joint genotyping, lets GATK HaplotypeCaller scale linearly with cohort size while calling indels more accurately than SAMtools, UnifiedGenotyper or Platypus.

bioRxiv · Jul 24, 2018 · PreprintGenomics✦ In-depth digest