With Big Data Comes Big Responsibility
summary
Genetic testing moves from niche to scale: cost drops faster than Moore’s Law and consumer tests move from $250 test vs $4,000 in price. Industry needs to stop hoarding variant frequencies and push into public resources like ClinVar variant sharing so interpretation improves. Practical wins include file and API engineering: BAM+BGZF with HTTP range requests and IGV.js showing 2,006 requests with 64KB responses plus ADAM and Google Genomics APIs that enable scalable queryable pipelines.
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chapters (5)
- 0:00Introduction and background
- 1:37Genomics industry challenges
- 7:57Data sharing responsibility
- 11:07Software tools in genomics
- 18:33Future of genomics and closing
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