Author

Shweta Sahni

All India Institute of Medical SciencesORCID 0000-0001-7843-5408Unclaimed ORCID profile · follow to get notified of new preprints

Biology Disciplines

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Genetic & Genomic Medicine· 1 Genetics· 1 Neuroscience· 1

Signature Assays, Organisms & Methods

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Organism:human· 3 Approach:statistical model· 2 Research Focus:variant calling· 2 Assay:bulk RNA-seq· 1 Research Focus:differential expression· 1 Assay:DNA methylation· 1 Approach:experimental assay· 1 Assay:long-read sequencing· 1

Frequent Co-Authors

Mohammed FaruqiD· 3 shared Achal Kumar SrivastavaiD· 2 shared Asokachandran VivekanandiD· 2 shared Bharathram UppiliiD· 2 shared Pooja SharmaiD· 2 shared Abhinav K. JainiD· 1 shared Akhilesh Kumar Sonakar· 1 shared Avni Anand· 1 shared

Activity by Year

2022-2023 · peak 2/yr

Co-Author Collaboration Network

10 top collaborators · 33 mutual co-author links

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3 shared papersNeuroscience

Mohammed FaruqORCID

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3 papers

Recent·Most cited

NeurosciencebioRxivPreprintJul 21, 2023

Length-dependent RNA foci formation and RAN translation are associated with SCA12 disorder

Manish Kumar, Shweta Sahni, Vivek Anand…·Mohammed Faruq

This study identifies molecular signatures of SCA12 by analyzing patient-derived neuronal cell lines and shows CAG repeat expansion leads to RNA foci and RAN translation.

DOI 10.1101/2023.07.21.550051

humanbulk RNA-seq

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Genetic & Genomic MedicinemedRxivPreprintJun 5, 2023

Investigation of RFC1 tandem nucleotide repeat locus in diverse neurodegenerative outcomes in an Indian cohort

Nishu Tyagi, Bharathram Uppili, Pooja Sharma…·Mohammed Faruq

The paper investigates the prevalence and association of RFC1 tandem nucleotide repeat expansions with neurodegenerative diseases in an Indian cohort.

3 citations

humanDNA methylation

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GeneticsbioRxivPreprintFeb 24, 2022

Accurate and simple FXN-GAA repeats (Friedreich ataxia loci) estimation by long read targeted sequencing.

Pooja Sharma, Bharathram Uppili, Istaq Ahmad…·Mohammed Faruq

The paper introduces a method for accurately estimating GAA repeats in Friedreich ataxia using long-read targeted sequencing, achieving high coverage and throughput.

1 citation

humanlong-read sequencing

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