iiinova — where your digital self keeps evolving

Reposted by Nancy Hansen

Adam Phillippy @aphillippy.bsky.social · 06/08/2026

For the past 30 years, “whole-genome sequencing” has been a misnomer. Today the T2T Consortium publishes a dozen papers heralding a future of truly complete genomes for humans and nearly any vertebrate 👨‍🔬🐒🐦🐀🦒🐎🫏🐹🐟 (sorry, no salamanders): www.cell.com/consortium/t... 🧵[1/15]

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Reposted by Nancy Hansen

Adam Phillippy @aphillippy.bsky.social · 22/09/2025

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]

biorxiv.org

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 ...

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Reposted by Nancy Hansen

Chris Gunter 🧬 @girlscientist.bsky.social · 08/02/2025

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.”

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Reposted by Nancy Hansen

Adam Phillippy @aphillippy.bsky.social · 31/10/2023

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.com

GitHub - marbl/HG002: A complete diploid human genome

A complete diploid human genome. Contribute to marbl/HG002 development by creating an account on GitHub.

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