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Nine children, one essential splicing gene, six different variants. Each one breaks the protein in its own way, which may explain why no two cases look alike. @AJHGNews
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🎧 Listen to the full episode, with transcript and sources: basebybase.com/episodes/srsf…
basebybase retweeted
We’re hosting micro1’s global Eval Hackathon.
9 days. online. individual. free to join.
Build an eval that tests where today’s frontier AI models still fall short, using your expertise across software, finance, legal, healthcare, science & more.
🏆 $10,000 in cash prizes!
🥳 Congratulations to Editor-in-Chief @kiranmusunuru
Congratulations and welcome to the 100 new members elected today to the National Academy of Medicine's class of 2026!
Read the full announcement: nam.edu/classof2026
#NAMmtg #NAMedicine
Some mutations live in fewer than 1 in 100 of your cells. A new benchmark shows deep sequencing can find them, and where it still fails. @AJHGNews
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Mothers carried it with no sign; their sons had autism. A tiny change in the MECP2 promoter cut the gene's output by about 30% in human neurons. @AJHGNews basebybase.com/episodes/mecp…
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▶️ Watch the video version on YouTube: youtu.be/6BO0MhMOjjU
A gene known for a severe childhood storage disease turned up in 14 people first seen for failing vision. In half, just enough enzyme was left to spare the body, not the retina. @AJHGNews basebybase.com/episodes/idua…
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GLP-1 drugs cost muscle along with fat. In obese mice, an RNA drug that turns on heat-burning fat added fat loss and halved lean mass loss. @PNASnews @theNASciences basebybase.com/episodes/zfp4…
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basebybase retweeted
A species of lungfish found in South America has claimed the title of the animal with the biggest genome sequenced so far.
The DNA of Lepidosiren paradoxa comprises a staggering 91 billion chemical letters or “bases,” 30 times as many as the human genome, researchers reported in 2024.
However, those 91 billion bases of DNA only contain about the same number of genes that humans have—roughly 20,000—with the rest consisting of noncoding, perhaps even “junk” DNA.
By comparing this genome with those of other lungfishes, the researchers determined that L. paradoxa adds the equivalent of a human genome to its DNA every 10 million years.
Learn more on #WorldAnimalDay: scim.ag/4o4YCe5
Why do schizophrenia hits barely clear the bar and skew common? Brain-related traits have huge mutational targets and face stronger selection. @PNASnews @theNASciences basebybase.com/episodes/brai…
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basebybase retweeted
scplotter provides a set of functions to visualize single-cell sequencing data in an easy and efficient way
github.com/pwwang/scplotter/…














