Seyoon Lee
@seyoon.bsky.social
PhD. Candidate | Seoul National University ‘19~| University of Pennsylvania ~’18 | Berkshire School ~’12 | Bioinformatics | Single Cell Analysis | ASC Organoids
Reposted by Seyoon Lee
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 by Seyoon Lee
Released a new version of my little data processing tool, `bam2bw`. As you might expect, it goes directly from BAM to un/stranded bigwig(s), but now also supports fragment.tsv files. No more intermediary sorting and bedGraph steps! Way faster + less disk than before.
github.com/jmschrei/bam...
github.com/jmschrei/bam...
GitHub - jmschrei/bam2bw: A command-line tool for reading SAM/BAM files and converted them directly to bigwig files.
A command-line tool for reading SAM/BAM files and converted them directly to bigwig files. - jmschrei/bam2bw
github.com
June 5, 2025 at 11:01 AM
Released a new version of my little data processing tool, `bam2bw`. As you might expect, it goes directly from BAM to un/stranded bigwig(s), but now also supports fragment.tsv files. No more intermediary sorting and bedGraph steps! Way faster + less disk than before.
github.com/jmschrei/bam...
github.com/jmschrei/bam...
Reposted by Seyoon Lee
A project five years in the making, we've now published complete "T2T" genomes for six additional ape species! It turns out that finishing (and analyzing) six genomes is slightly more work than one... doi.org/10.1038/s415...
April 9, 2025 at 9:31 PM
A project five years in the making, we've now published complete "T2T" genomes for six additional ape species! It turns out that finishing (and analyzing) six genomes is slightly more work than one... doi.org/10.1038/s415...