brownbag-science

Sequencing

Please ask questions!

• Central Dogma
• Next-Generation Sequencing Workflow
  • Library Prep
  • Sequencing
  • Data Analysis
• Shotgun Sequencing
• Next-Generation Sequencing Workflow
  • Library Prep
  • Sequencing
  • Data Analysis
• Types of NGS
• Sanger versus illumina
• illumina

Reference

• Genome Size
• Milestones
• NCBI Resources
• Medical Genetics
• References and Sources
• Terminology
• File Formats

Notable Sequencing Applications

• pre-natal testing - can sequence mothers blood (fetal dna makes way into mothers bloodstream)

• • jama 2015: 314(2):198
• cancer detection - cancer is shedding dna constantly
• transplant rejection - where transplant has different dna
• detect pathogens -
• precision medicine for study matching

Take Home Messages

1. Through chemistry, biochemistry, and understanding molecular biology - we can determine the sequences of our genome
2. There is a lot of work that happens after the Sequencer machine does its work
3. There are different types of sequencing, and each type has its own strengths and weaknesses; (cost, accuracy, time, etc).
4. Sometimes you don’t need the entire genome sequence, but rather a targeted subset: maybe just the exons, just the RNA, or a panel of carefully selected genes (oncomine)
5. The “reference assembly” for the human genome was originally based on just a few individuals, and we need to have thousands of individuals to better understand, create a catalogue of common human genetic variation

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