プロフィール詳細

プロジェクトを作成

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Dr. Sahana S.に依頼

India

Bioinformatician/Genome Informatician (PhD) | Clinical Genomics: WGS, WES, PGx, PRS & Somatic Variant Calling Pipelines

プロフィール概要

PGx expert and bioinformatician (PhD, CSIR-IGIB) with 5+ years specializing in clinical genomics and pharmacogenomics, aligned with CPIC/PharmGKB guidelines and ACMG/ClinGen standards. My doctoral research explored PGx variants and cross-ancestry allele frequencies in Indian populations (IndiGen, GUaRDIAN cohorts), published in peer-reviewed journals. I now build and troubleshoot clinical genomics pipelines end-to-end using Snakemake, Nextflow, Docker/Conda, and HPC/cloud infrastructure: WES: rare variant calling, gene coverage QC, sex/gender QC, contamination estimation PGx: variant annotation and clinical panel interpretation, CPIC/PharmGKB-aligned reporting PRS: pipeline development and production support Somatic variant calling: DRAGEN + PCGR workflows for cancer cohorts, from raw data to final report Germline analysis: CPSR-based clinical interpretation, ACMG/ClinGen-aligned variant classification AI/ML integration: collaborating with AI/ML teams to align genomic pipeline outputs with model-ready data formats Workshops & training: designed and led hands-on genomics/PGx workshops at international conferences (ISSCP 2024, ICCPP 2023) and academic institutions Comfortable across the full stack, FASTQ to VCF to clinical report, and known for chasing root causes rather than quick fixes. I write clean SOPs, generate solid QC reports, and enjoy digging into tricky edge cases most people skip.

専門分野

• ☆ Computational Biology
• ☆ Molecular Biology
• ☆ Genetics
• ☆ Omics
• ☆ Genomics
• ☆ Drug Development
• ☆ Pharmacogenomics

サービス

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

Writing Technical Writing

Research Scientific and Technical Research, Systematic Literature Review, Secondary Data Collection

Consulting Healthcare Consulting, Scientific and Technical Consulting

Data & AI Big Data Analytics, Data Processing, Data Insights

Product Development Product Evaluation, Product Validation, Quality Assurance & Control (QA/QC)

職務経験

Senior Bioinformatician

Wellytics Health

1月 2026 - 現在

Consultant

Wellytics Health

10月 2025 - 12月 2025

Manager - Bioinformatics

Indus Health Plus Pvt Ltd

9月 2024 - 6月 2025

Consultant - Product Genetics

Indus Health Plus Pvt Ltd

11月 2023 - 8月 2024

Consultant

Zifo Genomics Research Institute

5月 2023 - 10月 2023

Project Associate

CSIR - Institute of Genomics and Integrative Biology

4月 2019 - 3月 2023

学歴

PhD

CSIR - Institute of Genomics and Integrative Biology

8月 2021 - 7月 2024

Masters of Technology

Anna University, Chennai

8月 2016 - 5月 2018

Bachelors of Technology

Bharathidasan University

7月 2012 - 5月 2016

認定資格

• 認定資格の詳細は未入力です。

出版物

JOURNAL ARTICLE

S Sahana, Ambily Sivadas, Bani Jolly, Rahul C Bhoyar, Abhinav Jain, Disha Sharma, Mohamed Imran, Vigneshwar Senthivel, Mohit Kumar Divakar, Anushree Mishra, et al. (2024). Landscape of pharmacogenetic variants associated with non-insulin antidiabetic drugs in the Indian population . BMJ Open Diabetes Research & Care.

Mohamed Imran, Rahul C. Bhoyar, Abhinav Jain, S. Sahana, Mercy Rophina, V.R. Arvinden, Vigneshwar Senthivel, Mohit Kumar Divakar, Anushree Mishra, Bani Jolly, et al. (2024). Genetic epidemiology of monogenic dyslipidemia and statin-associated adverse drug phenotypes in Indian population from whole-genomes of 1029 self-declared healthy individuals . Human Gene.

S Sahana, Ambily Sivadas, Surabhi Rathore, Bani Jolly, Rahul C Bhoyar, Abhinav Jain, Disha Sharma, Mohamed Imran, Vigneshwar Senthilvel, Mohit Kumar Divakar, et al. (2024). The genomic landscape of CYP2D6 variation in the Indian population . Pharmacogenomics.

S. Sahana, Rahul C. Bhoyar, Ambily Sivadas, Abhinav Jain, Mohamed Imran, Mercy Rophina, Vigneshwar Senthivel, Mohit Kumar Diwakar, Disha Sharma, Anushree Mishra, et al. (2022). Pharmacogenomic landscape of Indian population using whole genomes . Clinical and Translational Science.

S Sahana, Ambily Sivadas, Mohit Mangla, Abhinav Jain, Rahul C Bhoyar, Kavita Pandhare, Anushree Mishra, Disha Sharma, Mohamed Imran, Vigneshwar Senthivel, et al. (2021). Pharmacogenomic Landscape of Covid-19 Therapies From Indian Population Genomes . Pharmacogenomics.