Author

Uma Maheswari

Illumina (United Kingdom)ORCID 0000-0001-7007-9234Unclaimed ORCID profile · follow to get notified of new preprints

Biology Disciplines

Click to filter author papers

Genetic & Genomic Medicine· 2 Bioinformatics· 1

Signature Assays, Organisms & Methods

Click to filter · or open tag

Approach:statistical model· 3 Assay:bulk RNA-seq· 2 Research Focus:database / resource· 2 Research Focus:differential expression· 2 Research Focus:gene regulatory network inference· 2 Organism:human· 2 Approach:machine learning (classical)· 1 Organism:multiple species· 1

Frequent Co-Authors

Mark T. RossiD· 2 shared Achal RastogiiD· 1 shared Adam B. KustkaiD· 1 shared Ahmad S. AminiD· 1 shared Alexander T HoiD· 1 shared Alisara AnannabiD· 1 shared Alistair T. PagnamentaiD· 1 shared Andrew A. GraceiD· 1 shared

Activity by Year

2018-2026 · peak 1/yr

Co-Author Collaboration Network

10 top collaborators · 15 mutual co-author links

Click any collaborator node to inspect or filter shared papers

Focal author (center)Selected co-authorORCID co-authorUnlinked name

Curved chords = mutual co-authorship

2 shared papersGenetic & Genomic Medicine

Mark T. RossORCID

Mutual co-authors in cluster

Author profile →

3 papers

Recent·Most cited

Genetic & Genomic MedicinemedRxivPreprintMar 23, 2026

Blood-based RNA-Seq of 5412 individuals with rare disease identifies new candidate diagnoses in the National Genomic Research Library

Jenny Lord, Alistair T. Pagnamenta, Letizia Vestito…·Diana Baralle

The paper uses blood-based RNA-Seq on 5,412 individuals with rare diseases to identify new candidate diagnoses and shows its utility in prioritizing genetic variants.

2 citations

humanbulk RNA-seq

𝕏 PostBluesky

Genetic & Genomic MedicineCirculationPeer-reviewedOct 11, 2024

A rare non-coding enhancer variant in SCN5A contributes to the high prevalence of Brugada syndrome in Thailand

Roddy Walsh, John Mauleekoonphairoj, Isabella Mengarelli…·Apichai Khongphatthanayothin

The paper identifies a rare non-coding enhancer variant in SCN5A associated with Brugada syndrome in Thailand, showing it disrupts a transcription factor binding site and reduces sodium current.

17 citationstop 3%

humanwhole-genome sequencing

𝕏 PostBluesky

BioinformaticsScientific ReportsPeer-reviewedMar 15, 2018

Integrative analysis of large scale transcriptome data draws a comprehensive functional landscape of Phaeodactylum tricornutum genome and evolutionary origin of diatoms

Achal Rastogi, Uma Maheswari, Richard G. Dorrell…·Leı̈la Tirichine

The paper integrates transcriptome data to annotate the Phaeodactylum tricornutum genome, identifies novel genes and alternative splicing, and explores the evolutionary origins of diatoms.

127 citationstop 3%

multiple speciesbulk RNA-seq

𝕏 PostBluesky