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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Episoder(441)

161: Decoding genomic landscapes of introgression

161: Decoding genomic landscapes of introgression

Huang X et al., Trends in Genetics - A concise review of methodological advances for identifying introgressed loci across genomes. The article surveys summary statistics, probabilistic modeling, and s...

8 Okt 202520min

160: Long reads meet single-cell omics

160: Long reads meet single-cell omics

Wen L et al., Trends in Genetics - This review surveys the integration of single-molecule long-read sequencing (SMS) with single-cell genomics, epigenomics and transcriptomics, describing platforms, m...

7 Okt 202515min

159: Short Reads, Big Biodiversity: The Untapped Potential of Genome Skimming

159: Short Reads, Big Biodiversity: The Untapped Potential of Genome Skimming

Bleidorn C et al., Trends in Genetics - This episode examines a Trends in Genetics review arguing that short-read shotgun sequencing and genome skimming remain powerful, cost-effective tools for biodi...

6 Okt 202515min

158: Interruptions in repeat expansion diseases and the SD-MMEJ hypothesis

158: Interruptions in repeat expansion diseases and the SD-MMEJ hypothesis

Aston AN et al., Trends in Genetics - This opinion article reviews how short sequence interruptions within expanded tandem repeats alter somatic instability and clinical outcomes across multiple repea...

5 Okt 202522min

157: Synthetic Gametes and the Non-Identity Problem

157: Synthetic Gametes and the Non-Identity Problem

Villalba A et al., Trends in Genetics - A concise exploration of how synthetic DNA could enable engineered haploid gametes, why that possibility intensifies the philosophical non-identity problem, and...

4 Okt 202514min

156: ZFKLO[N, ZUF and TKZLO[N Systems

156: ZFKLO[N, ZUF and TKZLO[N Systems

Cheng Y et al., Cell - This episode summarizes a technical report focused on ZFKLO[N and its relationships with ZUF and TKZLO[N systems as presented in the provided PDF. The document documents repeate...

3 Okt 202517min

155: eIF3A/EIF3B haploinsufficiency and a syndromic cause of CHD

155: eIF3A/EIF3B haploinsufficiency and a syndromic cause of CHD

Erkut E et al., The American Journal of Human Genetics - This episode examines an international cohort of 18 individuals with de novo or loss-of-function variants in EIF3A or EIF3B who present with co...

2 Okt 202515min

154: Multiple-testing corrections in IBD-based selection scans

154: Multiple-testing corrections in IBD-based selection scans

Temple SD et al., The American Journal of Human Genetics - Temple and Browning model correlations of identity-by-descent (IBD) rates to derive analytical and simulation-based genome-wide significance ...

1 Okt 202520min

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