basebybase

Where genomics meets sound. Music & podcasts inspired by research.

[basebybase @BasebyBasePod]

New episode: BALI uses light to write combinatorial DNA barcodes for tunable spatial multiomics with subcellular resolution and RNA+ATAC on the same tissue. Hear how LightScribe automates it: https://t.co/BA1DbCtDoV

[basebybase @BasebyBasePod]

New episode: we break down prime‑SGE, a multiplex prime editing screen that maps thousands of drug‑resistance variants across oncogenes and compares covalent vs non‑covalent EGFR inhibitor resistance. Listen: https://t.co/UNWnUIQTfp

[basebybase @BasebyBasePod]

New PaperCast Ep379: Long-read genomes reveal hidden structural and repeat variants in ASD, including novel DUP-DEL events, allele-specific FMR1 methylation, and rare-variant heritability estimates.… https://t.co/cCMWqBxaE3

[basebybase @BasebyBasePod]

New PaperCast: Monoallelic PSMB8 variants disrupt immunoproteasome assembly and cause PRAAS with immunodeficiency via a dominant-negative mechanism — episode 378. Listen: https://t.co/HiiDxp8qDw

[basebybase @BasebyBasePod]

New PaperCast: ProteomeLM — a proteome-scale language model that predicts protein–protein interactions and gene essentiality across taxa faster and more accurately than coevolution methods. Listen now: https://t.co/UeGB1T5dgx

[basebybase @BasebyBasePod]

New PaperCast Base by Base: Pfh1 helicase balances ATP-dependent unwinding and ATP-modulated rewinding at forks; mitochondrial SSB spRim1 accelerates both activities. Listen now: https://t.co/c1848hoSlp

[basebybase @BasebyBasePod]

PaperCast S2E375: Biallelic DSCAM loss causes a recessive neurodevelopmental syndrome with nystagmus and cone-pathway retinal dysfunction. Listen now https://t.co/CFaYg1POMs

[basebybase @BasebyBasePod]

New PaperCast: DNA-guided Cas12a is rewired to recognize and cleave RNA, enabling attomolar diagnostics (SLEUTH) and cellular knockdown proof-of-concept. Hear the structural and functional story: https://t.co/jpdjF7qG3W

[Yale Department of Genetics @YaleGenetics]

Rare disease diagnoses can rely on exome sequencing, but answers may be hiding in noncoding regions. 🧬 PromoterAI is a new deep learning tool that identifies pathogenic promoter variants, which may account for up to 6% of rare disease genetic burden 🔍
https://t.co/1GoPVcAwNW

[Marios Georgakis @MariosGeorgakis]

Great new genomic resources for inflammatory bowel disease (IBD) from the International IBD Genetics Consortium

1⃣The largest to date IBD GWAS in 125,992 cases & 1.2M controls showing 619 independent signals at 420 IBD regions accounting for 77–80% (!) of SNP-based heritability

[Peter Ottsjö @peterottsjo]

It’s undeniable: the AI scientists are here.

On May 19, Nature published three papers that gave the field one of those “something just changed forever” moments.

Here’s what you need to know. 🧵 (1/6)

[Google Labs @GoogleLabs]

Today, we introduced Gemini For Science, a collection of experimental tools designed to expand the scale and precision of scientific exploration.

Included in Gemini for Science are three (!!!) brand new Google Labs experiments. Meet your new AI research partners: 🧵👇

[Benjamin Chang @benjamin0chang]

My first PhD paper is out now in @Nature! Very grateful to have worked with the FutureHouse team on this, and a big shoutout to my co-first author @agreeb66 😀

[basebybase @BasebyBasePod]

New PaperCast: researchers report a ciliate nuclear genetic code where UAA→Lys and UAG→Glu — the first case of UAA and UAG coding different amino acids. Hear the findings and implications in Base by Base: https://t.co/aGT2RMiff1

[Jian Yang @jyang1981]

SV-GWAS is highly accessible now! Our new paper in @NatureGenet shows how HiFi long-read assemblies let us repurpose SNP-based GWAS data to impute structural variants (SVs) to interrogate their role in human complex traits and diseases. @WeiyangBai https://t.co/zSB90E3at0

[Dr. Thomas Ichim @exosome]

Today we all lost our jobs.....

Three Nature papers showing that scientists in the conventional sense are obsolete

At least read the first one.... the AI replaced all things that the scientist does ....

https://t.co/zMsRLaaRDU

[basebybase @BasebyBasePod]

New episode: How much of the IQ–SES link in young adults is genetic? TwinLife twin data show IQ at 23 predicts SES at 27, with genetics explaining most of the association—listen to PaperCast Base by Base: https://t.co/2tu3nI4jUF

[basebybase @BasebyBasePod]

New PaperCast: single-nucleus epigenomics links genetic risk to disease-specific glial states in AD, PiD and PSP—hear how dynamic chromatin, MPRA and SOX10 pinpoint modifiable lysosome and trafficking pat… https://t.co/tjgmSzpij5

[basebybase @BasebyBasePod]

New PaperCast: ICMT inhibition displaces INPP5E from membranes, raises PI(4,5)P2 and suppresses BRAFV600E-driven melanoma growth—UCM-1336 shows in vivo activity and ICMT is active against BRAF-resistant ce… https://t.co/pnJSyNLEZv

[basebybase @BasebyBasePod]

PaperCast: NEK2 inhibition selectively kills EBV-positive non-Hodgkin lymphoma cells, lowers LMP1 and drug resistance, and prolongs survival in humanized mice. Listen to the study breakdown: https://t.co/hkDSWtKROv