プロフィール詳細

プロジェクトを作成

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Dr. Pooja B.に依頼

India

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

プロフィール概要

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.

専門分野

• ★ 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

サービス

• 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

職務経験

Genomic Scientist

Lifebytes

9月 2020 - 現在

学歴

PhD

Jawaharlal Nehru Centre for Advanced Scientific Research

8月 2014 - 12月 2021

Masters of Science

Jawaharlal Nehru Centre for Advanced Scientific Research

8月 2011 - 7月 2014

Bachelor of Engineering

Birla institute of technology

8月 2007 - 6月 2011

認定資格

• CRISPR-Cas9 Bootcamp Workshop

  American Society of Human Genetics

  10月 2019 - 現在

• Analysis of Next-Generation Sequencing Data

  European Bioinformatics Institute | EMBL-EBI and IBAB

  11月 2018 - 現在

• Zeiss on your campus workshop on confocal and SR microscopy

  ZEISS India

  9月 2017 - 現在