@martinelferink.bsky.social
Bioinformatician with an interest in sequencing 🤓
Reposted
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
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]
Reposted
Sequencing by Expansion (SBX) -- a novel, high-throughput single-molecule sequencing technology https://www.biorxiv.org/content/10.1101/2025.02.19.639056v1
February 24, 2025 at 9:33 PM
Sequencing by Expansion (SBX) -- a novel, high-throughput single-molecule sequencing technology https://www.biorxiv.org/content/10.1101/2025.02.19.639056v1
Reposted
We are proud to announce a collaboration with UK Biobank to create the world’s first large-scale #epigenetic dataset of 50k participants. The dataset will unlock crucial insights into how #epigenetics drives disease & the breakthroughs to treat them.
Read more: nanoporetech.com/news/oxford-...
Read more: nanoporetech.com/news/oxford-...
November 27, 2024 at 9:16 AM
We are proud to announce a collaboration with UK Biobank to create the world’s first large-scale #epigenetic dataset of 50k participants. The dataset will unlock crucial insights into how #epigenetics drives disease & the breakthroughs to treat them.
Read more: nanoporetech.com/news/oxford-...
Read more: nanoporetech.com/news/oxford-...