basebybase
@BasebyBasePod
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🧬 Base by Base digs into genomics—from WGS & exome sequencing to variant interpretation—while also covering PCR, cfDNA screening & molecular diagnostics. Tune
Joined April 2025
Recent PhD grad Dishuck unveiled NPIP structural variation & evolutionary dynamics across 169 human haplotypes—revealing brain-expressed paralogs, selective sweeps & neofunctionalization. 🎧 @BasebyBasePod Ep. 129: Dives into NPIP’s role in our genome: https://t.co/rFwzJ5S9pW
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🚨 New in Cell: Personalized Molecular Signatures of Insulin Resistance & Type 2 Diabetes! 🎧 Podcast: https://t.co/T9fkEpskS1 📄 DOI: https://t.co/3eWHP7kXRu 📜 CC BY 4.0 Listen on Spotify & follow us on X! #InsulinResistance #Type2Diabetes #Proteomics #BaseByBase
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🚨 New in Nature Communications: Amino acids catalyse RNA formation under ambient alkaline conditions! 🎧 Listen on Spotify, Apple Music or Amazon Music: https://t.co/fAn0bQjPmU 📄 https://t.co/YoTlHOK0Hc 📜 CC BY 4.0 Follow us on X! #RNA #OriginOfLife #BaseByBase
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🚨 New in The American Journal of Human Genetics: Public preferences for genomic newborn screening in Australia! 📄 https://t.co/lRHckS5cx1 🎧 https://t.co/MPpn93YX0z 📜 CC BY 4.0 Listen on Spotify and follow us on X! #Genomics #NewbornScreening #BaseByBase
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🚨 New in Cell: SLC7A11 is an unconventional H⁺ transporter in lysosomes! 📄 https://t.co/IYlei9lubN 🎧 https://t.co/1etF8WrCEg 📜 CC BY 4.0 Listen on Spotify, Apple Music or Amazon Music — and follow us on X for more! #LysosomalpH #BaseByBase
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Base by Base · Episode
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🚨 New in American Journal of Human Genetics: Whole-Genome Inference of Polygenic Scores with Fast and Memory-Efficient Algorithms! 📄 https://t.co/KiWLLkGLEN 🎧 https://t.co/hWmHjYW5Il 📜 CC BY 4.0 Listen on Spotify and follow us on X! #PolygenicScores #Genomics #BaseByBase
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🚨 New in Cell: Bat virus ancestors of SARS-CoV-1 & SARS-CoV-2 likely circulated just years pre-spillover—spreading faster than expected! 📄 https://t.co/c01F9uiNgy 🎧 https://t.co/7gAHiVR5dK 📜 CC BY 4.0 Listen now + follow us! #Zoonosis #Genomics #BaseByBase
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🚨 New in AJHG: Chemoproteomics meets variant interpretation! CpDAAs highlight pathogenic missense variants in monogenic disease genes. 📄 https://t.co/wAqumtHyfi 🎧 Listen on Spotify: https://t.co/91hPoClFSO 📜 CC BY 4.0 👉 Follow us on X and hit play! #Genomics #BaseByBase
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🚨 New in The American Journal of Human Genetics: Bi-allelic POPDC2 Variants Cause an Autosomal Recessive Cardiac Syndrome! 📄 https://t.co/8mPH93B2su 🎧 https://t.co/JwBUQcvom5 📜 CC BY 4.0 Listen on Spotify and follow us on X! #CardiacGenetics #Arrhythmia #BaseByBase
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🚨 New in Cell: Tracing the Evolutionary History of CCR5Δ32 via Ancient and Modern Genomes! 📄 https://t.co/hc9TuBbGJ6 🎧 https://t.co/XGrSE2THSn 📜 CC BY 4.0 #CCR5Delta32 #Genomics #BaseByBase
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🚨 New in Genetics in Medicine: Pegtibatinase ERT in Classical Homocystinuria (COMPOSE Phase 1/2)! 📄 https://t.co/j0m2pakx3a 🎧 https://t.co/7d2dJ46CJE 📜 CC BY 4.0 #Homocystinuria #EnzymeTherapy #BaseByBase
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🚨 New in Cell: Mis-splicing-derived Neoantigens — A New Avenue for Immunotherapy in Leukemia! 📄 https://t.co/Y7XGzDkkDf 🎧 Hear the breakdown on Base por Base: https://t.co/ojD1awXSaf
#Leukemia #Immunotherapy #Neoantigens #BaseByBase
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🚨 New in Genetics in Medicine: Idursulfase Beta — A New Therapeutic Option for MPS II with Strong Clinical Evidence! 📄 https://t.co/THbnXO826g 🎧 Hear the breakdown on Base por Base: https://t.co/peKnzeF8bl
#Genomics #EnzymeTherapy #MPSII #HunterSyndrome #BaseByBase
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🚨 New in Genetics in Medicine: deep intronic FBN1 splice variants explain ~3% of unsolved Marfan cases! 📄 https://t.co/pcYaklIt9c 🎧 Hear the breakdown on Base by Base: https://t.co/jXAVePL0pq
#Genomics #Splicing #Marfan #BaseByBase
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