Author

Matthew R. Stone

Broad InstituteORCID 0000-0002-6575-7253Unclaimed ORCID profile · follow to get notified of new preprints

Additional preprints under this name without ORCID

Matthew R. Stone1 paper

Biology Disciplines

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Genomics· 3 Bioinformatics· 1

Signature Assays, Organisms & Methods

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Organism:human· 4 Approach:statistical model· 4 Assay:whole-genome sequencing· 3 Research Focus:variant calling· 2 Approach:Bayesian inference· 1 Approach:benchmark study· 1 Research Focus:benchmarking· 1 Assay:bulk RNA-seq· 1

Frequent Co-Authors

Harrison BrandiD· 3 shared Ryan L. CollinsiD· 3 shared Benjamin M. NealeiD· 2 shared Bernie DevliniD· 2 shared Harold Z. Wang· 2 shared Lambertus KleiiD· 2 shared Mark J. DalyiD· 2 shared Michael E. TalkowskiiD· 2 shared

Activity by Year

2019-2021 · peak 2/yr

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10 top collaborators · 44 mutual co-author links

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3 shared papersGenomics

Harrison BrandORCID

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Author profile →

4 papers

Recent·Most cited

BayesSpace enables the robust characterization of spatial gene expression architecture in tissue sections at increased resolution

Edward J. Zhao, Matthew R. Stone, Xing Ren, Jamie Guenthoer, Kimberly S. Smythe, Thomas Pulliam, Stephen R. Williams, Cedric R. Uytingco, Sarah E. B. Taylor, Paul Nghiem, Jason H. Bielas, Raphaël Gottardo

BayesSpace enhances spatial transcriptomics resolution and clustering, revealing tissue structures undetectable at lower resolutions.

Nature Biotechnology · Jun 3, 2021Peer-reviewedBioinformatics

Functional annotation of rare structural variation in the human brain

Lide Han, Xuefang Zhao, Mary Lauren Benton, Thanneer Malai Perumal, Ryan L. Collins, Gabriel E. Hoffman, Jessica Johnson, Laura Gail Sloofman, Harold Z. Wang, Matthew R. Stone, Schahram Akbarian, Jaroslav M. Bendl, Michael S. Breen, Kristen Brennand, Leanne Brown, , Michael E. Talkowski

The paper functionally annotates rare structural variants in the human brain by integrating SV calling with RNA-seq data to assess their regulatory effects and prioritize pathogenic deletions.

Nature Communications · Jun 12, 2020Peer-reviewedGenomics

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

Limited contribution of rare, noncoding variation to autism spectrum disorder from sequencing of 2,076 genomes in quartet families

Donna M. Werling, Harrison Brand, Joon‐Yong An, Matthew R. Stone, Joseph Glessner, Lingxue Zhu, Ryan L. Collins, Shan Dong, Ryan M. Layer, Eirene Markenscoff-Papadimitriou, Andrew Farrell, Grace Schwartz, Benjamin Currall, Jeanselle Dea, Clif Duhn, , Stephan Sanders

This study examines the role of noncoding variation in autism spectrum disorder using whole genome sequencing of 2,076 genomes, finding no significant association after correction for multiple testing.

European Neuropsychopharmacology · Jan 1, 2019Peer-reviewedGenomics