Where genomics meets sound. Music & podcasts inspired by research.
Joined April 2025
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▶️ Watch the video version on YouTube: youtu.be/jlk5ofVC444
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
👇 Link to the full episode in the first reply.
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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
👇 Link to the full episode in the first reply.
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▶️ Watch the video version on YouTube: youtu.be/6BO0MhMOjjU
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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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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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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A gene active in the retina's blood vessels, not its photoreceptors, rises out of AMD genetics. Mice without it lose dim-light and contrast vision. @PNASnews @theNASciences basebybase.com/episodes/cnn2…
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