Big data biology for pythonistas: getting in on the genomics revolution
summary
Sequencing cost falls from $3 billion and 13 years to under $1,000 and ~2 days, producing hundreds of thousands of genomes; the talk shows raw FASTQ → BAM → VCF pipeline, tools like bwa/bowtie2 and SAM files, and a PCA that reconstructs a map of Europe from variants. Case studies include Genomics England’s 100,000 genomes and a childhood epilepsy patient cured by diagnosis leading to a ketogenic diet intervention. Practical hurdles: inconsistent file conventions, slow clinical pipelines, and the power of trio sequencing for filtering variants.
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chapters (9)
- 0:00Introduction
- 0:37Who is Daria
- 4:00What is molecular biology
- 7:20What can you do with this data
- 10:20Single nucleotide variants
- 13:00What does this mean
- 16:00How is this being implemented
- 22:08Additional resources
- 23:55Questions
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