Cass
@confusedscientist.bsky.social
Former child
PhD student
and
part-time Chat-GPT's co-pilot.
She/her
PhD student
and
part-time Chat-GPT's co-pilot.
She/her
Reposted by Cass
Corgi: Context-aware sequence-to-activity model of human gene regulation www.biorxiv.org/content/10.1... 🧬🖥️🧪
June 26, 2025 at 3:30 PM
Corgi: Context-aware sequence-to-activity model of human gene regulation www.biorxiv.org/content/10.1... 🧬🖥️🧪
Reposted by Cass
How and when organisms edit their own genomes www.nature.com/articles/s41... (read free: rdcu.be/etJfW) ✂️🧬🖥️🧪
June 27, 2025 at 10:27 AM
How and when organisms edit their own genomes www.nature.com/articles/s41... (read free: rdcu.be/etJfW) ✂️🧬🖥️🧪
Reposted by Cass
Reposted by Cass
Interested in the results of the BARCODE PRS-guided prostate cancer screening study last month in @nejm.org? Just added to the Catalog is the PRS that was used in the cohort: www.pgscatalog.org/score/PGS005.... This and more in the latest release!
May 20, 2025 at 1:31 PM
Interested in the results of the BARCODE PRS-guided prostate cancer screening study last month in @nejm.org? Just added to the Catalog is the PRS that was used in the cohort: www.pgscatalog.org/score/PGS005.... This and more in the latest release!
Reposted by Cass
Functional synonymous mutations and their evolutionary consequences www.nature.com/articles/s41... 🧬🖥️🧪
May 21, 2025 at 8:00 PM
Functional synonymous mutations and their evolutionary consequences www.nature.com/articles/s41... 🧬🖥️🧪
Reposted by Cass
PIGEON: a statistical framework for estimating gene–environment interaction for polygenic traits www.nature.com/articles/s41... (read free: rdcu.be/enmPt) 🧬🖥️🧪 github.com/qlu-lab/PIGEON
May 23, 2025 at 8:00 PM
PIGEON: a statistical framework for estimating gene–environment interaction for polygenic traits www.nature.com/articles/s41... (read free: rdcu.be/enmPt) 🧬🖥️🧪 github.com/qlu-lab/PIGEON
Reposted by Cass
XVCF: Exquisite Visualization of VCF Data from Genomic Experiments www.biorxiv.org/content/10.1... 🧬🖥️🧪
May 7, 2025 at 3:30 PM
XVCF: Exquisite Visualization of VCF Data from Genomic Experiments www.biorxiv.org/content/10.1... 🧬🖥️🧪
Reposted by Cass
📃 I am excited to share our @naturegenet.bsky.social review paper on the state of psychiatric genetics in Latin America, put forth by the Latin American Genomics Consortium (LAGC)! 🎉
www.nature.com/articles/s41...
www.nature.com/articles/s41...
Psychiatric genetics in the diverse landscape of Latin American populations - Nature Genetics
Latin America and the Caribbean remain largely underrepresented in psychiatric genetics research. This Review highlights the need for more research in these populations to advance genetic insights and...
www.nature.com
April 2, 2025 at 3:24 PM
📃 I am excited to share our @naturegenet.bsky.social review paper on the state of psychiatric genetics in Latin America, put forth by the Latin American Genomics Consortium (LAGC)! 🎉
www.nature.com/articles/s41...
www.nature.com/articles/s41...
Reposted by Cass
Very interesting work by Tade Souaiaia et al on the non-polygenic architecture of the extremes of complex traits.
For many traits, polygenic scores show "regression to the mean" around the tails, as extreme traits are mostly due to rare alleles.
www.biorxiv.org/content/10.1...
For many traits, polygenic scores show "regression to the mean" around the tails, as extreme traits are mostly due to rare alleles.
www.biorxiv.org/content/10.1...
November 24, 2024 at 3:21 PM
Very interesting work by Tade Souaiaia et al on the non-polygenic architecture of the extremes of complex traits.
For many traits, polygenic scores show "regression to the mean" around the tails, as extreme traits are mostly due to rare alleles.
www.biorxiv.org/content/10.1...
For many traits, polygenic scores show "regression to the mean" around the tails, as extreme traits are mostly due to rare alleles.
www.biorxiv.org/content/10.1...
Reposted by Cass
An Emirati pangenome incorporating a diploid telomere-to-telomere reference https://www.biorxiv.org/content/10.1101/2024.12.16.628631v1 🧬🖥️🧪
December 20, 2024 at 4:30 PM
An Emirati pangenome incorporating a diploid telomere-to-telomere reference https://www.biorxiv.org/content/10.1101/2024.12.16.628631v1 🧬🖥️🧪
Reposted by Cass
STABIX: Summary statistic-based GWAS indexing and compression https://www.biorxiv.org/content/10.1101/2024.11.15.623812v1.full 🧬🖥️🧪 https://github.com/kristen-schneider/stabix from @ryanlayer.bsky.social lab
November 28, 2024 at 9:00 PM
STABIX: Summary statistic-based GWAS indexing and compression https://www.biorxiv.org/content/10.1101/2024.11.15.623812v1.full 🧬🖥️🧪 https://github.com/kristen-schneider/stabix from @ryanlayer.bsky.social lab
Reposted by Cass
Command line to pipeline: Cross-biobank analyses with Nextflow https://www.worldscientific.com/doi/pdf/10.1142/9789819807024_0050 Looks like a PSB 2025 paper. PSB was the conference that convinced me to sell everything I own and move to Hawaii to find a postdoc 🤙🏄♂️
November 29, 2024 at 4:30 PM
Command line to pipeline: Cross-biobank analyses with Nextflow https://www.worldscientific.com/doi/pdf/10.1142/9789819807024_0050 Looks like a PSB 2025 paper. PSB was the conference that convinced me to sell everything I own and move to Hawaii to find a postdoc 🤙🏄♂️
Reposted by Cass
CNV-Finder: Streamlining Copy Number Variation Discovery https://www.biorxiv.org/content/10.1101/2024.11.22.624040v1 🧬🖥️🧪 https://github.com/GP2code/CNV-Finder
November 29, 2024 at 7:30 PM
CNV-Finder: Streamlining Copy Number Variation Discovery https://www.biorxiv.org/content/10.1101/2024.11.22.624040v1 🧬🖥️🧪 https://github.com/GP2code/CNV-Finder
Let's 👏 not 👏forget👏 to 👏add👏 samples👏 from👏 female👏 sex 👏in 👏biological👏 studies 👏ppl
November 22, 2024 at 8:00 PM
Let's 👏 not 👏forget👏 to 👏add👏 samples👏 from👏 female👏 sex 👏in 👏biological👏 studies 👏ppl
I get it. A presentation is a tool to remember the informations during said presentation. But to put word for word is very bad.
November 21, 2024 at 6:21 PM
I get it. A presentation is a tool to remember the informations during said presentation. But to put word for word is very bad.
Do not put so much text in your presentation. If 90% of your slides are looking like a book, please, i beg you, just send the ppl the file you used to make it. We would rather read at out on time than have a meeting for someone to read it for us.
November 21, 2024 at 6:20 PM
Do not put so much text in your presentation. If 90% of your slides are looking like a book, please, i beg you, just send the ppl the file you used to make it. We would rather read at out on time than have a meeting for someone to read it for us.
Reposted by Cass
Clair3-RNA: A deep learning-based small variant caller for long-read RNA sequencing data https://www.biorxiv.org/content/10.1101/2024.11.17.624050v1 🧬🖥️🧪 https://github.com/HKU-BAL/Clair3-RNA
November 20, 2024 at 4:37 PM
Clair3-RNA: A deep learning-based small variant caller for long-read RNA sequencing data https://www.biorxiv.org/content/10.1101/2024.11.17.624050v1 🧬🖥️🧪 https://github.com/HKU-BAL/Clair3-RNA
I thought about abandoning by PhD only twice this week to open a bakery. I count that as a victory, honestly.
November 16, 2024 at 12:35 AM
I thought about abandoning by PhD only twice this week to open a bakery. I count that as a victory, honestly.