Note: Big Data Management for Genomics Thailand (SI - Strategic Resesearch Forum)

Talk by Dr. Sissades Tongsima (National Biobank of Thailand)

Understanding risk – > can aid us in making important life decisions to have a good health

1. Thai-mutation database

2. Biobank – MoPH

3. Sequencing facility – ThaiOmics – private company run through BGI

4. Computational infrastructure from NSTDA

Operational plan

1. Recruit patients

2. Draw Blood sent to MoPH –  extract DNA with standard protocol

3. DNA shift to ThaiOmics (Burapa U.)

4. Send the data to NSTDA – creating tool for users easy to use

สิ่งที่เขาเอามาคือ

• Variation by comparing with GRCh38

• Looking at frequency of each variation

• See further whether it effects the exons, and protein structures

As of now (2023-07-17)

• ~30,000 have been recruited

Software

• Variant @nnotation and prioritization ปกติแล้วจะต้องซื้อเขาเอา –

• หลัก ๆ คือ เอา variants ที่น่าจะมีความเกี่ยวข้องกับโรค เอาออกมา –

• โดยดูในเรื่องของ sequence alignment, see whether they are conserved –

• this step requires expert domain to interpret and feedback the platform

Cancer

• Targeted sequencing (using gene panels to sequence) – Dr.Manop

• But WGS can reveal more information 

Old blogs -- related to genomic Thailand:

https://t-lerksuthirat.blogspot.com/2022/10/geneomics-thailand-day-1.html

https://t-lerksuthirat.blogspot.com/2022/11/genomics-thailand-day-2.html

https://t-lerksuthirat.blogspot.com/2022/10/genomic-thailand-day-3.html

https://t-lerksuthirat.blogspot.com/2022/11/genomic-thailand-3.html