Khushboo Singhal

About

I am a postdoctoral researcher specializing in human molecular genomics, RNA biology, and gene regulation. I completed my Ph.D. at the CSIR-Institute of Genomics and Integrative Biology (IGIB), India, with a focus on transposable elements (Alu repeats), transcriptome regulation, and human genetic variation.

My current research focuses on understanding the molecular mechanisms underlying rare genetic diseases, using functional genomics and multi-omics approaches. I have experience in next-generation sequencing (NGS), transcriptomics, proteomics, lipidomics, and disease modeling in mammalian cell systems, including 3D organoid models.

I am skilled in molecular biology techniques (DNA, RNA, and protein analysis), gene expression studies, and bioinformatics tools (R, genome browsers, gene ontology analysis). My research interests include RNA-mediated regulation, the non-coding genome, transposable elements, neurodegeneration, and lysosomal storage disorders.

Employment

Employment history is unavailable.

Education

• University of Delhi Bachelors in Zoology (Hons.)
• University of Delhi Masters in Genetics

Projects & Funding

Projects & funding information is unavailable.

Publications (13)

• Identification of serum protein biomarkers in individuals with Niemann-Pick disease, type C1
  2026 DOI: 10.64898/2026.01.12.26343721
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• Exonized Alu repeats in the 3'UTR of a CYP20A1_Alu-LT transcript act as a miRNA sponge
  BMC Research Notes 2023 DOI: 10.1186/S13104-023-06289-Z
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• An Alu insertion map of the Indian population: identification and analysis in 1021 genomes of the IndiGen project.
  NAR genomics and bioinformatics 2022 DOI: 10.1093/nargab/lqac009
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• Transcriptome analysis and connectivity mapping of Cissampelos pareira L. provides molecular links of ESR1 modulation to viral inhibition.
  Scientific reports 2021 DOI: 10.1038/s41598-021-99444-0
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• Rapid and accurate nucleobase detection using FnCas9 and its application in COVID-19 diagnosis.
  Biosensors & bioelectronics 2021 DOI: 10.1016/j.bios.2021.113207
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• High throughput detection and genetic epidemiology of SARS-CoV-2 using COVIDSeq next-generation sequencing.
  PloS one 2021 DOI: 10.1371/journal.pone.0247115
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• Multiple Alu Exonization in 3'UTR of a Primate-Specific Isoform of CYP20A1 Creates a Potential miRNA Sponge.
  Genome biology and evolution 2021 DOI: 10.1093/gbe/evaa233
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• Traditional use of Cissampelos pareira L. For hormone disorder and fever provides molecular links of ESR1 modulation to viral inhibition
  bioRxiv 2021 DOI: 10.1101/2021.02.17.431579
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• Frequency spectrum of rare and clinically relevant markers in multiethnic Indian populations (ClinIndb): A resource for genomic medicine in India.
  Human mutation 2020 DOI: 10.1002/humu.24102
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• Experimental toolkit to study RNA level regulation
  Rna-Based Regulation in Human Health and Disease 2020 DOI: 10.1016/B978-0-12-817193-6.00016-9
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