Nancy Hansen
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Nancy Hansen
@nancyfhansen.bsky.social
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Scientist at NHGRI/NIH. Posts are my opinions only. She/her
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Reposted by Nancy Hansen
aphillippy.bsky.social
Delighted to finally announce a preprint describing the Q100 project! “A complete diploid human genome benchmark for personalized genomics” For which we finished HG002 to near-perfect accuracy: www.biorxiv.org/content/10.1... 🧵[1/14]
A complete diploid human genome benchmark for personalized genomics
Human genome resequencing typically involves mapping reads to a reference genome to call variants; however, this approach suffers from both technical and reference biases, leaving many duplicated and ...
www.biorxiv.org
September 22, 2025 at 5:01 PM
Reposted by Nancy Hansen
girlscientist.bsky.social
This weekend for work, I happen to be re-reading a 2011 report on the economic impact of the Human Genome Project. www.battelle.org/docs/default...
AI summary of the report including “This analysis found that the project created 3.8 million job-years and $244 billion in personal income. It also returned $141 in economic output per dollar invested.”
February 8, 2025 at 1:57 PM
Reposted by Nancy Hansen
aphillippy.bsky.social
We are excited to release v1.0 of our HG002 genome benchmark today! Our goal with the Q100 project is to create a complete and perfectly accurate representation of the diploid HG002 genome to serve as a replacement for current variant-based benchmarks. More info here: github.com/marbl/HG002
GitHub - marbl/HG002: A complete diploid human genome
A complete diploid human genome. Contribute to marbl/HG002 development by creating an account on GitHub.
github.com
October 31, 2023 at 10:09 PM