Author

Allen E. Bale

Yale University

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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Genetic & Genomic Medicine· 2 Genetics· 1

Signature Assays, Organisms & Methods

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Organism:human· 3 Approach:statistical model· 3 Assay:whole-exome sequencing· 2 Assay:whole-genome sequencing· 2 Approach:benchmark study· 1 Research Focus:benchmarking· 1 Research Focus:database / resource· 1 Research Focus:gene regulatory network inference· 1

Frequent Co-Authors

Alan H. BeggsiD· 2 shared Andrew B. CrouseiD· 2 shared Ashley AndrewsiD· 2 shared Ashok BalasubramanyamiD· 2 shared Beatriz AnguianoiD· 2 shared Ben Afzali· 2 shared Brett J. Bordini· 2 shared Carlos A. BacinoiD· 2 shared

Activity by Year

2020-2025 · peak 2/yr

Co-Author Collaboration Network

10 top collaborators · 45 mutual co-author links

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2 shared papersGenetic & Genomic Medicine

Alan H. BeggsORCID

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3 papers

Recent·Most cited

An optimized variant prioritization process for rare disease diagnostics: recommendations for Exomiser and Genomiser

Isabelle B. Cooperstein, Shruti Marwaha, Alistair N. Ward, Shilpa N. Kobren, Jennefer N. Carter, Undiagnosed Diseases Network, Aaron R. Quinlan, Abdul Aziz Elkadri, Adeline L. Vanderver, Adriana P. Rebelo, Alan H. Beggs, Albert R. La Spada, Alden Huang, Alex Paul, Alexander Miller, , Emily Glanton

This paper optimizes variant prioritization parameters for Exomiser and Genomiser to improve diagnostic yield in rare disease cases using WES and WGS data.

Genome Medicine · Oct 21, 2025Peer-reviewedGenetic & Genomic Medicine

Joint, multifaceted genomic analysis enables diagnosis of diverse, ultra-rare monogenic presentations

Shilpa N. Kobren, Mikhail A. Moldovan, Rebecca Reimers, Daniel Traviglia, Xinyun Li, Danielle Barnum, Alexander D. Veit, Rosario I. Corona, George de V. Carvalho Neto, Julian Willett, Michele Berselli, William Ronchetti, Stanley F. Nelson, Julián A. Martínez-Agosto, Richard I. Sherwood, , Esteban C. Dell’Angelica

The paper presents a joint genomic analysis of UDN patients using whole genome sequencing and new statistical methods to prioritize disease genes, revealing new disease associations and releasing a software tool for cohort analysis.

Nature Communications · Aug 6, 2025Peer-reviewedGenetics

Whole-exome sequencing analysis on products of conception: A cohort study to evaluate clinical utility and genetic etiology for pregnancy loss

Chen Zhao, Hongyan Chai, Qinghua Zhou, Jiadi Wen, Uma M. Reddy, Rama D. Kastury, Yong‐hui Jiang, Winifred Mak, Allen E. Bale, Hui Zhang, Peining Li

This study uses whole-exome sequencing on products of conception to identify genetic causes of pregnancy loss, finding pathogenic variants in 22% of cases and a higher rate with uncertain variants included.

Genetics in Medicine · Oct 25, 2020Peer-reviewedGenetic & Genomic Medicine