Esha Joshi

Bioinformatician

About me

Hi there!

As a bioinformatician, I develop and deploy robust, reproducible and scalable bioinformatics pipelines, perform routine end-to-end NGS analysis, and develop novel tools and solutions for genomic data analysis, visualization and sharing. I am passionate about innovation at the intersection of bioinformatics, genomics, and software development. I have experience in the analysis of large-scale WGS/WES data, and RNAseq data in both short-read and long-read sequencing technologies. I also have experience developing full-stack web applications aimed at solving common data-centric problems in genomics.


I currently work as Bioinformatics Engineer at a start-up called 54gene within their Genomics and Data Science team.


Connect with me

Tech stack

Here are some tools and tech I am familiar with and commonly use:

Python/R

Nextflow & Snakemake

Java

AWS/GCP/Azure

mySQL and noSQL

Linux

Git

CI/CD

GATK Best Practices

Docker & Singularity

HPC

Conda

Experience

I look for opportunities in fast-paced, start-up environments and prefer roles in human genomics, and bioinformatics.

Bioinformatics Engineer

54gene

Nov 2021 - Present

My role involves the development, maintainance and deployment of production-level bioinformatics pipelines and tools. This includes workflows such as a Snakemake-based pipeline for whole-genome sequencing data, R-based tool for benchmarking of computational efficiency within our pipelines, and other tools for customized data analysis. I also perform data analysis, generate quality control reports, and regularly disemminate results and data to our internal stakeholders.

Bioinformatics Analyst

Government of Ontario (Public Health Ontario)

Jun 2020 - Nov 2021

I was the primary technical lead for the Biocomputing Centre on the COVID-19 Genomics project, providing computational support for routine data-analysis, QC/QA, identification and tracking of variants of concern, and development of bioinformatics pipelines handling 40k+ genomes to date. I worked closely with external stakeholders and interdisciplinary groups at the Ministry level to help develop provincial guidelines from SARS-CoV-2 genomic insights.

Software Developer

DNAstack

Master's Internship

Jan 2020 - May 2020

I lead the software development of an extension to the Beacon Network, a real-time serach engine used to crowdsource genomic variant data. I also contributed to the development of an ETL pipeline for a real-time search engine built for SARS-CoV-2 data, now known as Viral.ai. I worked on full-stack development of services including REST APIs built with Java, Javascript, relational databases (PostgreSQL, BigQuery), deployed on GCP and Azure.

Bioinformatics Research Assistant

Ted Rogers Genome Clinic/The Centre for Applied Genomics

Master's Project

May 2019 - Jan 2020

I helped develop a visual analytics software used for clinical variant interpretation, known as Geneterpret. I worked on both the back-end and front-end development (Python, Javascript/Node.js, and mongoDB) and performed extensive software testing and validation using internal patient datasets and datasets from external database such as ClinVar, dbSNP, COSMIC, and gnomAD.

Education

Masters of Science in Human Genomics, Molecular Genetics

University of Toronto St. George

2018 - 2020

Bachelors of Science, Molecular Biology & Human Genetics

University of Toronto

2014 - 2018

Projects I've worked on

(More to come soon!)

Publications

Co-author, “Manshaei R, DeLong S, Andric V, Joshi E. et al. GeneTerpret: a customizable multilayer approach to genomic variant prioritization and interpretation” BMC Medical Genomics. January 2022. DOI

Co-author, "Gill I et al. The Dataharmonizer: a Tool for Faster Data Harmonization, Validation, Aggregation, and Analysis of Pathogen Genomics Contextual Information. Preprints 2022. DOI

Co-author, “Guthrie JL, Teatero S, Zitterman S, Chen Y, et al. Detection of the Novel SARS-CoV-2 European Lineage B.1.177 in Ontario, Canada” Public Health Ontario. J of Clinical Virology Plus. December 2022. DOI

First author, “Joshi E, Mighton C, Clausen M, et al. Primary care provider perspectives on using genomic sequencing in the care of healthy children.” Eur J Hum Genet. 2019. DOI

Co-author,“Mighton C, Carlsson L, Causen M, et al. Development of patient “profiles” to tailor counseling for incidental genomic sequencing results” EJHG. 2019. DOI

Co-author, “Shickh S, Clausen M, Mighton C, et al. Evaluation of a decision aid for incidental genomic results, the Genomics ADvISER: protocol for a mixed methods randomised controlled trial. BMJ Open. 2018;8:4. DOI

Location

Toronto, Ontario, Canada

Resume/CV


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