Base by Base

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(444)

346: Palindromes and RNA Self-Recognition

346: Palindromes and RNA Self-Recognition

Kimchi O et al., PNAS - This computational study shows that self-complementary RNA regions (palindromes) can drive sequence-specific homotypic clustering by enabling multivalent intermolecular base pa...

19 Apr 23min

345: Genes of Prosody: Rhythm, Music, and Reading

345: Genes of Prosody: Rhythm, Music, and Reading

Scartozzi AC et al., Human Genetics and Genomics Advances - This episode reviews a GWAS of speech rhythm (prosody) perception using the TOPsy task (n≈1,501 European-ancestry), reporting 14 suggestive ...

17 Apr 25min

344: Homozygous TNNI3 p.Arg136* and severe pediatric restrictive cardiomyopathy

344: Homozygous TNNI3 p.Arg136* and severe pediatric restrictive cardiomyopathy

Kühnisch J et al., Human Genetics and Genomics Advances 7, 100598 (2026) - Case report and tissue analysis linking a homozygous TNNI3 nonsense variant (c.406C>T; p.Arg136*) to early-onset, treatment-r...

17 Apr 23min

343: From Cats to Dogs: The Parvovirus Host Jump

343: From Cats to Dogs: The Parvovirus Host Jump

López-Astacio RA et al., PNAS - Analysis of 60 years of feline panleukopenia virus genomes traces the origins of canine parvovirus, identifies vaccine-derived sequences, and documents distinct evoluti...

15 Apr 13min

342: Modular MPRA Reveals Context-Dependent Regulation at T2D Loci

342: Modular MPRA Reveals Context-Dependent Regulation at T2D Loci

Tovar A et al., Human Genetics and Genomics Advances - This episode examines a study that used a modular MPRA to test ~11,656 genomic fragments from T2D- and metabolic trait-associated regions in panc...

14 Apr 17min

341: The Genetic Lottery and the Value of an Extra Year of School

341: The Genetic Lottery and the Value of an Extra Year of School

Widding-Havneraas T et al., PNAS - This study uses genetic variation related to educational attainment as a quasi-experimental instrument (Mendelian randomization) together with Norwegian registry dat...

13 Apr 29min

340: Microexon Control of Behavior — PTPRD Splicing

340: Microexon Control of Behavior — PTPRD Splicing

Imai A et al., Proceedings of the National Academy of Sciences (PNAS) - This paper shows that alternative splicing of a 12-nt microexon (meB) in Ptprd is regulated by a genetic intronic enhancer and a...

12 Apr 17min

339: cxt: A language model for population genetics

339: cxt: A language model for population genetics

Korfmann K et al., Proceedings of the National Academy of Sciences (PNAS) - This episode examines cxt, a decoder-only transformer that performs next-coalescence prediction by translating local mutatio...

11 Apr 22min

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