Author

Tehmina Masud

BC Cancer AgencyORCID 0009-0003-4126-3130Unclaimed ORCID profile · follow to get notified of new preprints

Biology Disciplines

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Genomics· 2 Bioinformatics· 1 Genetic & Genomic Medicine· 1

Signature Assays, Organisms & Methods

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Organism:human· 4 Approach:deep learning· 2 Assay:DNA methylation· 2 Approach:statistical model· 2 Research Focus:variant effect prediction· 2 Assay:whole-genome sequencing· 2 Assay:bulk RNA-seq· 1 Research Focus:clustering· 1

Frequent Co-Authors

Beixi WangiD· 2 shared Daniel LaiiD· 2 shared Emma Laks· 2 shared Farhia KabeeriD· 2 shared Jazmine BrimhalliD· 2 shared Justina BieleiD· 2 shared Omar WagihiD· 2 shared Richard A. MooreiD· 2 shared

Activity by Year

2018-2023 · peak 2/yr

Co-Author Collaboration Network

10 top collaborators · 36 mutual co-author links

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2 shared papersGenomics

Beixi WangORCID

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4 papers

Recent·Most cited

BioinformaticsbioRxivPreprintSep 20, 2023

An RNA foundation model enables discovery of disease mechanisms and candidate therapeutics

Albi Celaj, Alice Jiexin Gao, Tammy Lau…·Brendan J. Frey

The paper introduces BigRNA, an RNA foundation model that predicts RNA biology from DNA sequence and identifies therapeutic effects of SBOs on gene expression and splicing.

29 citations

humanDNA methylation

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Genetic & Genomic MedicineFrontiers in Molecular BiosciencesPeer-reviewedSep 8, 2023

A curated census of pathogenic and likely pathogenic UTR variants and evaluation of deep learning models for variant effect prediction

Emma Bohn, Tammy T. Y. Lau, Omar Wagih…·Daniele Merico

The paper curates a high-confidence set of pathogenic and likely pathogenic UTR variants and evaluates deep learning models for predicting their functional impact.

10 citations

humanGWAS summary statistics

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GenomicsPLoS Computational BiologyPeer-reviewedSep 23, 2020

Epiclomal: probabilistic clustering of sparse single-cell DNA methylation data

Camila P. E. de Souza, Mirela Andronescu, Tehmina Masud…·Sohrab P. Shah

Epiclomal clusters sparse single-cell DNA methylation data and imputes missing values, outperforming non-probabilistic methods and revealing sub-clonal methylation patterns in tumour genomes.

33 citations

humanDNA methylation

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GenomicsbioRxivPreprintSep 13, 2018

Resource: Scalable whole genome sequencing of 40,000 single cells identifies stochastic aneuploidies, genome replication states and clonal repertoires

Emma Laks, Hans Zahn, Daniel Lai…·Samuel A. J. R. Aparicio

13 citations

humanwhole-genome sequencing

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