Author

Brian S. Cole

Broad InstituteORCID 0000-0002-6377-6215Unclaimed ORCID profile · follow to get notified of new preprints

Biology Disciplines

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Bioinformatics· 2 Genetic & Genomic Medicine· 1

Signature Assays, Organisms & Methods

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Organism:human· 3 Approach:statistical model· 3 Research Focus:variant effect prediction· 2 Assay:whole-exome sequencing· 2 Research Focus:gene regulatory network inference· 1 Assay:scRNA-seq· 1 Research Focus:variant calling· 1

Frequent Co-Authors

Abdulrahman I. AlasiriiD· 1 shared Andrew J. CatomerisiD· 1 shared Andrew R. HameliD· 1 shared Aviv RegeviD· 1 shared Ayellet V. SegrèiD· 1 shared Bao‐Li LozaiD· 1 shared Brendan J. KeatingiD· 1 shared Broad CMG· 1 shared

Activity by Year

2021-2023 · peak 2/yr

Co-Author Collaboration Network

10 top collaborators · 12 mutual co-author links

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1 shared paperBioinformatics

Abdulrahman I. AlasiriORCID

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3 papers

Recent·Most cited

BioinformaticsBioData MiningPeer-reviewedFeb 2, 2023

LoFTK: a framework for fully automated calculation of predicted Loss-of-Function variants

Abdulrahman I. Alasiri, Konrad J. Karczewski, Brian S. Cole…·Jessica van Setten

LoFTK automatically predicts LoF variants and identifies genes affected by compound heterozygous LoF variants in genomes.

10 citations

humanwhole-exome sequencing

𝕏 PostBluesky

Genetic & Genomic MedicineGenetics in MedicinePeer-reviewedNov 30, 2021

The Importance of Automation in Genetic Diagnosis: Lessons from Analyzing an Inherited Retinal Degeneration Cohort with the Mendelian Analysis Toolkit (MATK)

Erin Zampaglione, Matthew Maher, Emily Place…·Kinga M. Bujakowska

The paper introduces MATK, an automated variant ranking tool for Mendelian disease diagnosis, showing it identifies most expert solutions and finds additional variants in unsolved cases.

18 citations

humanwhole-exome sequencing

𝕏 PostBluesky

BioinformaticsbioRxivPreprintNov 24, 2021

ECLIPSER: identifying causal cell types and genes for complex traits through single cell enrichment of e/sQTL-mapped genes in GWAS loci

John M. Rouhana, Jiali Wang, Gökçen Eraslan…·Ayellet V. Segrè

ECLIPSER identifies causal cell types and genes for complex traits by integrating GWAS loci with single-cell RNA-seq data through e/sQTL mapping and enrichment analysis.

13 citations

𝕏 PostBluesky