About me
I work as a Research Associate at the Department of Paediatrics, University of Cambridge, UK. I focus on the project titled "The NeuralNET: Research to Impact Diagnosis, Mechanistic Understanding, and Treatment of Children's Brain and Mental Health Disorders." This project involves collaboration with East Genomics Laboratory Hub - NHS, Addenbrookes Hospital, and Illumina in Cambridge.
My primary research interest lies in the clinical diagnosis of rare disorders using Whole Genome Sequencing (WGS) approaches. Specifically, I focus on analyzing disease-causing genetic variants and gene candidates to elucidate the functional impact of genomic variations in rare disorders, with a particular emphasis on Cerebral Palsy. Additionally, I engage in the periodic reanalysis of rare disorder cohorts involving critically ill paediatric patients in NICU/PICU settings to enhance diagnostic yield. In order to meet these goals, I have created and put into operation several data analysis workflows using advanced platforms and technologies, such as DNAnexus cloud platform, Illumina TSS, Emedgene gene-agnostic variant analysis platform with integration of HPC, CONDA, Docker, Singularity, API-based PhenoTips databases records update pipelines, and the Nextflow/Snakemake workflow management system. Additionally, I am responsible for maintaining the extensive data generated from this project on highly secure storage systems.
Prior to my current role, I worked as a Bioinformatics Research Associate on the "Investigating Autism Using Genetics and Epigenetics" (IMAGE) study at the Autism Research Centre (ARC), University of Cambridge, UK. In this capacity, I conducted rare variant analysis of WGS data from autism multiplex families, utilizing bioinformatic pipelines on High-Performance Computing (HPC) cluster platforms. Our team's research, which involved sequencing 21 highly multiplex autism families to identify and prioritize autism-associated genes, was published in the esteemed "Nature Molecular Psychiatry" journal, with me as a shared first and corresponding author.
Before joining the University of Cambridge, I contributed to the Accelerator Program for Discovery in Brain Disorders Using Stem Cells (ADBS) at TIFR-National Centre for Biological Sciences (NCBS). In this project, I developed analysis workflows on HPC for big data analysis. I analyzed and maintained the whole-exome sequence data from multiplex families with severe mental illness to identify disease-causing genes. Additionally, I developed the GenomicsQC pipeline for assessing stem cell line samples. My earlier research experience includes working on an Insect Transcriptomics project and conducting DNA barcoding studies of insect pests.
I hold a Ph.D. in Bioinformatics from NEERI and SRTM University Nanded, India. My doctoral research involved developing software for the taxonomic classification of bacteria and plants using pattern-based signatures.
I've authored 20 research articles published in well-reputed peer-reviewed international journals and was the editor of 'Soft Computing for Biological Systems' by Springer publications. I've also presented posters at several international conferences.
I received the award for outstanding project personnel at CSIR-NEERI, Nagpur India, and was an International Intern at NIBB Institute, Japan.
Education
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Ph.D. in Bioinformatics (Faculty of Science)
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Thesis titled “DNA Barcoding: Pattern-Based Approach for Creating a Gene Specific Signature” under guidance of Dr. Hemant Purohit, CSIR-NEERI, Nagpur, India from Swami Ramanand Teerth Marathwada University (SRTM), Nanded, Maharashtra, India (Registration: 10-05-2011, Thesis Submitted: 26-06-2014, Awarded: 17-04-2015)
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M.Sc. in Bioinformatics
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MGM College of CS & IT, Nanded (Swami Ramanand Teerth Marathwada University), Nanded, Maharashtra (MH), India (July 2009)
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B.Sc. in Microbiology, Chemistry, Botany
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Badrinarayan Barwale Mahavidyalaya College, Jalna (Dr Babasaheb Ambedkar Marathwada University, Aurangabad) MH, India (December 2006)
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H.S.C. (English, Pali, Psychology, Physics, Chemistry, Biology)
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MSS College, Jalna (MSBSHSE Board, Pune) (June 2003)
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S.S.C. (Marathi, Hindi, English, Maths, Science, Social Sciences)
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CTMK School, Jalna (MSBSHSE Board, Pune) (June 2001)
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