Author

Samuel DeLuca

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· 1

Signature Assays, Organisms & Methods

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Research Focus:benchmarking· 1 Approach:experimental assay· 1 Research Focus:imputation· 1 Research Focus:variant calling· 1 Assay:whole-exome sequencing· 1 Assay:whole-genome sequencing· 1

Frequent Co-Authors

Alicia R. MartiniD· 1 shared Benjamin M. NealeiD· 1 shared Christine R. StevensiD· 1 shared Dan Joseph SteiniD· 1 shared Daniel P. HowriganiD· 1 shared Hailiang HuangiD· 1 shared Jonna GrimsbyiD· 1 shared Joseph D. BuxbaumiD· 1 shared

Activity by Year

2024-2024 · peak 1/yr

Co-Author Collaboration Network

10 top collaborators · 45 mutual co-author links

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1 shared paperGenomics

Alicia R. MartinORCID

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1 paper

Recent·Most cited

Blended Genome Exome (BGE) as a Cost Efficient Alternative to Deep Whole Genomes or Arrays

Matthew T. DeFelice, Jonna Grimsby, Daniel P. Howrigan, Kai Yuan, Sinéad B. Chapman, Christine R. Stevens, Samuel DeLuca, Megan Townsend, Joseph D. Buxbaum, Margaret Ann Pericak‐Vance, Shengying Qin, Dan Joseph Stein, Solomon Teferra, Ramnik J. Xavier, Hailiang Huang, , Benjamin M. Neale

The paper introduces a cost-efficient sequencing method called Blended Genome Exome (BGE) that combines low-coverage whole genome and high-coverage exome data, achieving >99% concordance with 30x WGS for variant imputation and rare coding variant calling.

bioRxiv · Apr 3, 2024 · PreprintGenomics