Profile Details

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USD 50 /hr

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Hire Dr. Pooja B.

India

USD 50 /hr

PhD | Genome Scientist | NGS | Genetic data curation | Rare Disease

Profile Summary

I am a genomic scientist with experience in analysing whole exome and whole genome patient data. Some of the highlights of the work I have done in this domain are: 1. Exome/genome variant annotation using the web-based version of Ensembl Variant Effect Predictor (VEP). 2. Using in-silico prediction tools such as PolyPhen-2, SIFT and Mutation taster for exome/genome variants. 3. Variant filtration and prioritization, which led to the identification of novel epilepsy-causing genes in large multi-affected families. 4. Understanding and curating gene-disease associations. 5. Execution of PCR, sanger sequencing and data analysis for over 20,000 individual reactions. 6. Can independently design and execute complex molecular/cellular biology experiments to investigate the functions of uncharacterized proteins. 7. Have worked with various model systems such as mammalian cultures, mouse and zebrafish.

Subject Matter Expertise

• ★ Molecular Biology
• ★ Research
• ☆ Next Generation Sequencing (NGS)
• ☆ DNA Sequencing
• ☆ Genome Sequencing
• ☆ Exome Sequencing
• ☆ Cell Biology
• ☆ Stem Cell Research
• ☆ Database Management
• ☆ Cell Culture
• ☆ Rare Diseases
• ☆ Gene Therapy

Services

• Writing
• Research
• Consulting
• Data & AI
• Product Development

Writing Technical Writing, Copywriting

Research User Research, Meta-Research, Feasibility Study, Fact Checking, Gap Analysis, Gray Literature Search, Systematic Literature Review

Consulting Scientific and Technical Consulting

Data & AI Statistical Analysis, Algorithm Design-Non ML, Data Visualization, Big Data Analytics, Data Processing

Product Development Concept Development

Work Experience

Genomic Scientist

Lifebytes

September 2020 - Present

Education

PhD

Jawaharlal Nehru Centre for Advanced Scientific Research

August 2014 - December 2021

Masters of Science

Jawaharlal Nehru Centre for Advanced Scientific Research

August 2011 - July 2014

Bachelor of Engineering

Birla institute of technology

August 2007 - June 2011

Certifications

• CRISPR-Cas9 Bootcamp Workshop

  American Society of Human Genetics

  October 2019 - Present

• Analysis of Next-Generation Sequencing Data

  European Bioinformatics Institute | EMBL-EBI and IBAB

  November 2018 - Present

• Zeiss on your campus workshop on confocal and SR microscopy

  ZEISS India

  September 2017 - Present