Base by Base
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Base by Base

Base by Base explores advances in genetics and genomics, with a focus on gene-disease associations, variant interpretation, protein structure, and insights from exome and genome sequencing. Each episode breaks down key studies and their clinical relevance—one base at a time. Powered by AI, Base by Base offers a new way to learn on the go. Special thanks to authors who publish under CC BY 4.0, making open-access science faster to share and easier to explore.

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Avsnitt(443)

179: Mosaicism for Autosomal Trisomies: Maternal Age, UPD, and Reproductive History in 1,266 Cases

179: Mosaicism for Autosomal Trisomies: Maternal Age, UPD, and Reproductive History in 1,266 Cases

️ Episode 179: Mosaicism for Autosomal Trisomies: Maternal Age, UPD, and Reproductive History in 1,266 Cases In this episode of PaperCast Base by Base, we explore a comprehensive literature analysis o...

26 Okt 202516min

178: TP53 Reduced Penetrance: Predictive Features and Clinical Implications

178: TP53 Reduced Penetrance: Predictive Features and Clinical Implications

️ Episode 178: TP53 Reduced Penetrance: Predictive Features and Clinical Implications In this episode of PaperCast Base by Base, we explore how a large ClinVar-anchored analysis integrates functional...

25 Okt 202515min

177: Biallelic MCM8/MCM9 Variants: From Hypogonadism to Cancer Predisposition

177: Biallelic MCM8/MCM9 Variants: From Hypogonadism to Cancer Predisposition

️ Episode 177: Biallelic MCM8/MCM9 Variants: From Hypogonadism to Cancer Predisposition In this episode of PaperCast Base by Base, we explore a multi‑cohort clinical–genomic study that delineates the...

24 Okt 202517min

176: FAHD1 and the Pyruvate-Driven Evolution of Hepatocellular Carcinoma

176: FAHD1 and the Pyruvate-Driven Evolution of Hepatocellular Carcinoma

️ Episode 176: FAHD1 and the Pyruvate-Driven Evolution of Hepatocellular Carcinoma In this episode of PaperCast Base by Base, we explore how multi-omics integration—spanning single-cell transcriptomi...

23 Okt 202519min

175: Predictive Prioritization of Pancreatic Enhancers Linked to Disease Risk

175: Predictive Prioritization of Pancreatic Enhancers Linked to Disease Risk

️ Episode 175: Predictive Prioritization of Pancreatic Enhancers Linked to Disease Risk In this episode of PaperCast Base by Base, we explore how enhancer–promoter 3D chromatin maps from five primary ...

22 Okt 202519min

174: TMEM217–SLC9C1: Wiring the cAMP Switch for Sperm Motility and Male Fertility

174: TMEM217–SLC9C1: Wiring the cAMP Switch for Sperm Motility and Male Fertility

️ Episode 174: TMEM217–SLC9C1: Wiring the cAMP Switch for Sperm Motility and Male Fertility In this episode of PaperCast Base by Base, we explore a PNAS study revealing how TMEM217 forms a complex wi...

21 Okt 202516min

173: Bottlebrush Block Copolymer Shields Muscles and Prevents DMD Onset

173: Bottlebrush Block Copolymer Shields Muscles and Prevents DMD Onset

️ Episode 173: Bottlebrush Block Copolymer Shields Muscles and Prevents DMD Onset In this episode of PaperCast Base by Base, we explore a PNAS study showing how a synthetic bottlebrush block copolyme...

20 Okt 202520min

172: When Random DNA Fights Back: De Novo Gene Birth as Antiphage Defense

172: When Random DNA Fights Back: De Novo Gene Birth as Antiphage Defense

️ Episode 172: When Random DNA Fights Back: De Novo Gene Birth as Antiphage Defense In this episode of PaperCast Base by Base, we explore a PNAS study showing that short, previously nongenic DNA sequ...

19 Okt 202519min

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