Author

Elissa Alarmani

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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Genetic & Genomic Medicine· 1

Signature Assays, Organisms & Methods

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Approach:Bayesian inference· 1 Assay:bulk RNA-seq· 1 Research Focus:database / resource· 1 Research Focus:differential expression· 1 Research Focus:gene regulatory network inference· 1 Organism:human· 1 Approach:large language model· 1 Approach:machine learning (classical)· 1

Frequent Co-Authors

Abdallah LamaneiD· 1 shared Anne O’Donnell‐LuriaiD· 1 shared Ben WeisburdiD· 1 shared Benjamin M. NealeiD· 1 shared Caroline M. CusickiD· 1 shared Charlotte Tolonen· 1 shared Christine R. StevensiD· 1 shared Christopher Vittal· 1 shared

Activity by Year

2026-2026 · peak 1/yr

Co-Author Collaboration Network

10 top collaborators · 45 mutual co-author links

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1 shared paperGenetic & Genomic Medicine

Abdallah LamaneORCID

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1 paper

Recent·Most cited

Genetic & Genomic MedicinemedRxivPreprintMar 25, 2026

✦ In-depth digest

Integrating 730,947 exome sequences with clinical literature improves gene discovery

Jérémy Guez, Julia K. Goodrich, Mikhail A. Moldovan…·Konrad J. Karczewski

gnomAD v4 (730,947 exomes) brings LOFTEE-2 loss-of-function annotation (0.90 precision, strict mode), missense-aware constraint, and LLM-mined literature evidence combined with constraint to rank disease genes.

26 citations

humanwhole-exome sequencing