Author

Ira M Hall

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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Bioinformatics· 3 Genomics· 1

Signature Assays, Organisms & Methods

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Organism:human· 3 Approach:statistical model· 3 Assay:whole-genome sequencing· 3 Research Focus:variant effect prediction· 2 Research Focus:database / resource· 1 Approach:deep learning· 1 Research Focus:differential expression· 1 Research Focus:software / tool· 1

Frequent Co-Authors

Colby ChiangiD· 2 shared Liron GaneliD· 2 shared Aaron R Quinlan· 1 shared Adam FrankishiD· 1 shared Alawi A Alsheikh-Ali· 1 shared Alexander G Ioannidis· 1 shared Alexandra J Scott· 1 shared Alexis BattleiD· 1 shared

Activity by Year

2014-2026 · peak 1/yr

Co-Author Collaboration Network

10 top collaborators · 17 mutual co-author links

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2 shared papersGenomics

Colby ChiangORCID

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Author profile →

4 papers

Recent·Most cited

GBZ-base and GAF-base: Indexed pangenome file formats

Jouni Sirén, Benedict Paten, Derek Albracht, Ivan A Alexandrov, Jamie Allen, Alawi A Alsheikh-Ali, Nicolas Altemose, Casey Andrews, Dmitry Antipov, Lucinda Antonacci-Fulton, Mobin Asri, Marcelo Ayllon, Jennifer R Balacco, Floris P Barthel, Edward A Belter, , Sergey Koren

The paper introduces GBZ-base and GAF-base, indexed pangenome file formats for efficient subgraph and alignment extraction.

Bioinformatics · Oct 24, 2026Peer-reviewedBioinformatics

The impact of structural variation on human gene expression

Colby Chiang, Alexandra J Scott, Joe R Davis, Emily K Tsang, Xin Li, Yungil Kim, Farhan N Damani, Liron Ganel, GTEx Consortium, Stephen B Montgomery, Alexis Battle, Donald F Conrad, Ira M Hall

This study identifies structural variants (SVs) as significant contributors to gene expression, finding they are more frequent causal variants than previously estimated and have larger effect sizes.

Nature Genetics · Apr 3, 2017Peer-reviewedGenomics

SVScore: An Impact Prediction Tool For Structural Variation

Liron Ganel, Haley J Abel, Ira M Hall

SVScore predicts the functional impact of structural variations using aggregated pathogenicity scores, showing it identifies deleterious variants better than alternative methods.

bioRxiv · Sep 6, 2016Bioinformatics

SpeedSeq: Ultra-fast personal genome analysis and interpretation

Colby Chiang, Ryan M Layer, Gregory G Faust, Michael R Lindberg, David B Rose, Erik P Garrison, Gabor T Marth, Aaron R Quinlan, Ira M Hall

SpeedSeq reduces genome analysis time to under 24 hours using a single low-cost server, enabling faster clinical applications like cancer profiling and newborn diagnosis.

bioRxiv · Dec 5, 2014Bioinformatics