Author

Khushboo Singhal

Institute of Genomics and Integrative BiologyORCID 0000-0003-1251-7683Unclaimed ORCID profile · follow to get notified of new preprints

Biology Disciplines

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Genetic & Genomic Medicine· 2 Genomics· 2

Signature Assays, Organisms & Methods

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

Frequent Co-Authors

Gyan RanjaniD· 2 shared Paras SehgaliD· 2 shared Rahul C. BhoyariD· 2 shared Abhinav K. JainiD· 1 shared Aleksha Panwar· 1 shared Ananya NandyiD· 1 shared Ananya NayakiD· 1 shared Anjali SinghiD· 1 shared

Activity by Year

2021-2026 · peak 3/yr

Co-Author Collaboration Network

10 top collaborators · 29 mutual co-author links

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2 shared papersGenetic & Genomic Medicine

Gyan RanjanORCID

Mutual co-authors in cluster

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4 papers

Recent·Most cited

Genetic & Genomic MedicineBiomarker ResearchPeer-reviewedMay 9, 2026

Identification of serum protein biomarkers in individuals with Niemann-Pick disease, type C1

Khushboo Singhal, Matthew Tyler Menold, Niamh X. Cawley…·Forbes D. Porter

This study identifies and validates serum protein biomarkers for Niemann-Pick disease, type C1, showing correlations with disease severity and response to therapy.

DOI 10.1186/s40364-026-00927-x

humanproteomics

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Genetic & Genomic MedicineBiosensors and BioelectronicsPeer-reviewedApr 5, 2021

Rapid, accurate, nucleobase detection using FnCas9

Mohd. Azhar, Rhythm Phutela, Manoj Kumar…·Souvik Maiti

FELUDA uses FnCas9 for rapid, accurate nucleobase detection and is implemented in a point-of-care diagnostic tool for SARS-CoV-2.

240 citationstop 1%

DNA methylationwhole-genome sequencing

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GenomicsbioRxivPreprintFeb 17, 2021

Transcriptome analysis and connectivity mapping of Cissampelos pareira L. provides molecular links of ESR1 modulation to viral inhibition

Madiha Haider, Dhwani Dholakia, Aleksha Panwar…·Mitali Mukerji

This study identifies molecular links between ESR1 modulation and viral inhibition through transcriptome analysis of Cissampelos pareira extract in MCF7 cells.

5 citations

humanbulk RNA-seq

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GenomicsPLoS ONEPeer-reviewedFeb 17, 2021

High throughput detection and genetic epidemiology of SARS-CoV-2 using COVIDSeq next generation sequencing

Rahul C. Bhoyar, Abhinav K. Jain, Paras Sehgal…·Sridhar Sivasubbu

This study evaluates the COVIDSeq protocol for SARS-CoV-2 detection and genetic epidemiology, showing high concordance with RT-PCR and identifying novel variants and lineages.

146 citationstop 1%

whole-genome sequencingexperimental assay

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